Global Variome shared LOVD
LRAT (lecithin retinol acyltransferase (phosphatid...))
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Global Variome, with Curator vacancy
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The variants shown are described using the NM_004744.3 transcript reference sequence.
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Effect
: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.
Exon
: number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = from intron 2 to intron 7, 8i_9 = intron 8/exon 9 boundary, _1 = 5' to exon 1, 18_ = 3' of exon 18, _1_18_ = encompassing the entire 18-exon gene
DNA change (cDNA)
: description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup. For deletions/duplications extending beyond the reference transcript resp. {0}/{2} is used to replace del/dup. Extent of the deletion/duplication should be specified using the genomic description (g.). "-" indicates the variant described on genomic level does not affect the coding DNA reference sequence.
RNA change
: description of variant at RNA level (following HGVS recommendations).
r.123c>u
r.? = unknown
r.(?) = RNA not analysed but probably transcribed copy of DNA variant
r.spl? = RNA not analysed but variant probably affects splicing
r.(spl?) = RNA not analysed but variant may affect splicing
r.0? = change expected to abolish transcription
Protein
: description of variant at protein level (following HGVS recommendations).
p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
p.Arg345Pro = change derived from RNA analysis
p.? = unknown effect
p.0? = probably no protein produced
Allele
: On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.
Classification method
: The method used for the clinical classification of this variant.
All options:
ACMG
ACGS
EAHAD-CFDB
ENIGMA
IARC
InSiGHT
kConFab
other
Clinical classification
: Clinical classification of variant, preferably based on standardised criteria (e.g. ACMG), directed on the clinical consequences as published/submitted, indicated using an enriched system including inheritance: e.g. pathogenic, pathogenic (dominant), pathogenic (recessive), pathogenic (!), pathogenic (maternal), pathogenic (paternal). Standard inheritance is covered by dominant/recessive, imprinting by maternal/paternal. A '!' warns for exceptional circumstances to be explained in the 'Remarks' field (low penetrance, variants pathogenic in heterozygous state only, hypomorphic/hypermorphic variants, protective variants, etc.). Non-disease consequences (e.g. drug metabolism (pharmacogenetics), risk factor, blood group, tasting bitter) are indicated using additions to the benign classification; benign (dominant), benign (recessive), benign (!), etc. The value 'association' is used for variants associated with a phenotype and 'NA' for variants from in vitro/in silico records. NOTE: classification may differ from the opinion of the curator as given in a variant SUMMARY-record or the 'Functional effect concluded'). NOTE: pathogenic/likely pathogenic should go together with "variant (probably) affects function" In ClassFunctional.
All options:
pathogenic
pathogenic (dominant)
pathogenic (recessive)
pathogenic (!)
pathogenic (maternal)
pathogenic (paternal)
likely pathogenic
likely pathogenic (dominant)
likely pathogenic (recessive)
likely pathogenic (!)
likely pathogenic (maternal)
likely pathogenic (paternal)
VUS
VUS (!)
likely benign
likely benign (dominant)
likely benign (recessive)
likely benign (!)
likely benign (maternal)
likely benign (paternal)
benign
benign (dominant)
benign (recessive)
benign (!)
benign (maternal)
benign (paternal)
conflicting
association
NA
DNA change (genomic) (hg19)
: HGVS description of variant at DNA level, based on the genomic (chromosomal) DNA reference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
DNA change (hg38)
: HGVS description of variant at DNA level, based on the hg38 genomic (chromosomal) eference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
Published as
: listed only when different from "DNA change"; variant as reported originally (e.g. 521delT). Variants seen in animal models, tested in vitro, predicted from RNA analysis, etc. are described between brackets like c.(456C>G)
ISCN
: description of the variant according to ISCN nomenclature
DB-ID
: database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro
Variant remarks
: remarks regarding variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.
Reference
: publication describing the variant submitted, incl. links to OMIM, PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
ClinVar ID
: ID of variant in ClinVar database
dbSNP ID
: the dbSNP ID
Origin
: Origin of variant/record: Germline = in all cells, De novo = in all cells, but not in either parent, Germline/De novo (untested) = in all cells, parents not tested (use only when De novo is likely, e.g. isolated/sporadic cases with dominant disease), Somatic = present in a subset of cells, but not in either parent, Uniparental disomy = from parental disomy (maternal or paternal), CLASSIFICATION record = submitter only sharing variant classification (note another report may share Individual data), SUMMARY record = master summary record from curator (may link to another database), In vitro (cloned) = data resulting from in vitro functional assays, animal model = data from animal model, Artefact = false positive variant call, DUPLICATE record = variant already described on another chromosome (e.g. unbalanced translocation, duplicating transposition, 2nd fusion transcript, etc.)
All options:
Germline
De novo
Germline/De novo (untested)
Somatic
Uniparental disomy
Uniparental disomy, maternal allele
Uniparental disomy, paternal allele
CLASSIFICATION record
SUMMARY record
In vitro (cloned)
In silico
animal model
Artefact
DUPLICATE record
Unknown
Not applicable
Segregation
: Indicates whether the variant segregates with the phenotype (yes), does not segregate with the phenotype (no) or segregation is unknown (?)
All options:
? = unknown
yes = segregates with phenotype
no = does not segregate with phenotype
- = not applicable
Frequency
: frequency in which the variant was found; e.g 5/760 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested)
Re-site
: restriction enzyme recognition site created (+) or destroyed (-); e.g. BglII+;BamHI-
VIP
: variant VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Methylation
: result of methylation test; GOM (gain of methylation), LOM (loss of methylation), 30% (30% methylated). NOTE: when several tests were done mention the method as well (e.g. MS-PCR 75%)
Template
: Template(s) used to detect the sequence variant; DNA (genomic DNA), RNA (cDNA) or protein
All options:
DNA
RNA = RNA (cDNA)
protein
? = unknown
Technique
: technique(s) used to identify the sequence variant.
All options:
? = unknown
ARMS = amplification refractory mutation system
arrayCGH = array for Comparative Genomic Hybridisation
arrayMET = array for methylation analysis
arraySEQ = array for resequencing
arraySNP = array for SNP typing
arrayCNV = array for Copy Number Variation (SNP and CNV probes)
ASO = allele-specific oligo hybridisation
BESS = Base Excision Sequence Scanning
CMC = Chemical Mismatch Cleavage
COBRA = Combined Bisulfite Restriction Analysis
CSCE = Conformation Sensitive Capillary Electrophoresis
CSGE = Conformation Sensitive Gel Electrophoresis
ddF = dideoxy Fingerprinting
DGGE = Denaturing-Gradient Gel-Electrophoresis
DHPLC = Denaturing High-Performance Liquid Chromatography
DOVAM = Detection Of Virtually All Mutations (SSCA variant)
DSCA = Double-Strand DNA Conformation Analysis
DSDI = Detection Small Deletions and Insertions
EMC = Enzymatic Mismatch Cleavage
expr = expression analysis
FISH = Fluorescent In-Situ Hybridisation
FISHf = fiberFISH
HD = HeteroDuplex analysis
HPLC = High-Performance Liquid Chromatography
IEF = IsoElectric Focussing
IHC = Immuno-Histo-Chemistry
Invader = Invader assay
MAPH = Multiplex Amplifiable Probe Hybridisation
MAQ = Multiplex Amplicon Quantification
MCA = Melting Curve Analysis, high-resolution (HRMA)
microscope = microscopic analysis (karyotype)
microsat = microsatellite genotyping
minigene = expression minigene construct
MIP = Molecular Inversion Probe amplification
MIPsm = single molecule Molecular Inversion Probe amplification
MLPA = Multiplex Ligation-dependent Probe Amplification
MLPA-ms = Multiplex Ligation-dependent Probe Amplification, methylation specific
MS = mass spectrometry
Northern = Northern blotting
NUC = nuclease digestion (RNAseT1, S1)
OM = optical mapping
PAGE = Poly-Acrylamide Gel-Electrophoresis
PCR = Polymerase Chain Reaction
PCRdd = PCR, digital droplet
PCRdig = PCR + restriction enzyme digestion
PCRh = PCR, haloplex
PCRlr = PCR, long-range
PCRm = PCR, multiplex
PCRms = PCR, methylation sensitive
PCRq = PCR, quantitative (qPCR)
PCRrp = PCR, repeat-primed (RP-PCR)
PCRsqd = PCR, semi-quantitative duplex
PE = primer extension (APEX, SNaPshot)
PEms = primer extension, methylation-sensitive single-nucleotide
PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
PTT = Protein Truncation Test
RFLP = Restriction Fragment Length Polymorphisms
RT-PCR = Reverse Transcription and PCR
RT-PCRq = Reverse Transcription and PCR, quantitative
SBE = Single Base Extension
SEQ = SEQuencing (Sanger)
SEQb = bisulfite SEQuencing
SEQp = pyroSequencing
SEQms = sequencing, methylation specific
SEQ-ON = next-generation sequencing - Oxford Nanopore
SEQ-NG = next-generation sequencing
SEQ-NG-RNA = next-generation sequencing RNA
SEQ-NG-H = next-generation sequencing - Helicos
SEQ-NG-I = next-generation sequencing - Illumina/Solexa
SEQ-NG-IT = next-generation sequencing - Ion Torrent
SEQ-NG-R = next-generation sequencing - Roche/454
SEQ-NG-S = next-generation sequencing - SOLiD
SEQ-PB = next-generation sequencing - Pacific Biosciences
SNPlex = SNPlex
Southern = Southern blotting
SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
SSCAf = fluorescent SSCA (SSCP)
STR = Short Tandem Repeat
TaqMan = TaqMan assay
Western = Western blotting
- = not applicable
Tissue
: tissue type used for analysis
Remarks
: remarks regarding the screening like WGS (whole genome sequencing), WES (whole exome sequencing, gene panel (incl. a list of genes analysed), etc.
ID_report
: ID of the individual that can be publically shared, e.g. as listed in a publication
Reference
: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
Remarks
: remarks about the individual
Gender
: gender individual
All options:
? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male
Consanguinity
: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:
no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable
Country
: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:
? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)
Population
: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.
Age at death
: age at which the individual deceased (when applicable):
35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
VIP
: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Data_av
: are additional data available upon request: e.g. pedigree (yes/no/?)
Treatment
: treatment of patient
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Operator
Column type
Example
Matches
Text
Arg
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space
Text
Arg Ser
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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
all entries with values from 20 to 29, but not equal to 23
Some more advanced examples:
Example
Matches
Asian
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian
all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
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103 entries on 2 pages. Showing entries 1 - 100.
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Effect
Exon
DNA change (cDNA)
RNA change
Protein
Allele
Classification method
Clinical classification
DNA change (genomic) (hg19)
DNA change (hg38)
Published as
ISCN
DB-ID
Variant remarks
Reference
ClinVar ID
dbSNP ID
Origin
Segregation
Frequency
Re-site
VIP
Methylation
Template
Technique
Tissue
Remarks
Disease
ID_report
Reference
Remarks
Gender
Consanguinity
Country
Population
Age at death
VIP
Data_av
Treatment
Panel size
Owner
+/.
_1_3_
c.-123_*3982{0}
r.0
p.0
Maternal (confirmed)
ACMG
pathogenic
g.(?_155665253)_(155674270_?)del
g.(?_154744101)_(154753118_?)del
Exon1-3deletion
-
LRAT_000028
heterozygous, causative variant
PubMed: Hosono 2018
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG, SEQ
blood
Targeted next-generation sequencing
retinal disease
JU1039
PubMed: Hosono 2018
proband, family JIKEI-145
F
no
Japan
Asian
-
-
-
-
1
LOVD
+/.
_1_3_
c.-123_*3982{0}
r.0
p.0
Maternal (confirmed)
ACMG
pathogenic
g.(?_155665253)_(155674270_?)del
g.(?_154744101)_(154753118_?)del
Exon1-3deletion
-
LRAT_000028
heterozygous, causative variant
PubMed: Hosono 2018
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG, SEQ
blood
Targeted next-generation sequencing
retinal disease
JU1040
PubMed: Hosono 2018
sister of JU1039, family JIKEI-145
F
no
Japan
Asian
-
-
-
-
1
LOVD
+/.
-
c.12del
r.(?)
p.(Met5CysfsTer54)
Unknown
-
pathogenic
g.155665490del
g.154744338del
LRAT(NM_004744.5):c.12delC (p.M5Cfs*54)
-
LRAT_000011
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
1
c.12del
r.(?)
p.(Met5Cysfs*54)
Both (homozygous)
-
likely pathogenic
g.155665490del
-
c.12delC, p.M5CfsX53
-
LRAT_000011
-
PubMed: Littink-2012
-
-
Germline
yes
-
-
-
-
DNA
PCR
blood
-
retinal disease
-
PubMed: Littink-2012
-
M
-
Netherlands
-
-
-
-
-
1
LOVD
+?/.
1
c.12del
r.(?)
p.(Met5Cysfs*54)
Both (homozygous)
-
likely pathogenic
g.155665490del
-
c.12delC, p.M5CfsX53
-
LRAT_000011
-
PubMed: Littink-2012
-
-
Germline
yes
-
-
-
-
DNA
PCR
blood
-
retinal disease
-
PubMed: Littink-2012
-
M
-
Netherlands
-
-
-
-
-
1
LOVD
+?/.
1
c.12del
r.(?)
p.(Met5Cysfs*54)
Both (homozygous)
-
likely pathogenic
g.155665490del
-
c.12delC, p.M5CfsX53
-
LRAT_000011
-
PubMed: Littink-2012
-
-
Germline
yes
-
-
-
-
DNA
PCR
blood
-
retinal disease
-
PubMed: Littink-2012
-
M
-
Netherlands
-
-
-
-
-
1
LOVD
+?/.
1
c.12del
r.(?)
p.(Met5Cysfs*54)
Both (homozygous)
-
likely pathogenic
g.155665490del
-
c.12delC, p.M5CfsX53
-
LRAT_000011
-
PubMed: Littink-2012
-
-
Germline
yes
-
-
-
-
DNA
PCR
blood
-
retinal disease
-
PubMed: Littink-2012
-
M
-
Netherlands
-
-
-
-
-
1
LOVD
+?/.
-
c.12del
r.(?)
p.(Met5Cysfs*54)
Both (homozygous)
-
likely pathogenic
g.155665490del
g.154744338del
LRAT c.12del, p.[Met5Cysfs*53]
-
LRAT_000011
homozygous
PubMed: Talib 2019
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
retinal disease
I
PubMed: Talib 2019
sibling of II
M
-
-
Dutch
-
-
-
-
1
LOVD
+?/.
-
c.12del
r.(?)
p.(Met5Cysfs*54)
Both (homozygous)
-
likely pathogenic
g.155665490del
g.154744338del
LRAT c.12del, p.[Met5Cysfs*53]
-
LRAT_000011
homozygous
PubMed: Talib 2019
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
retinal disease
II
PubMed: Talib 2019
sibling of I
M
-
-
Dutch
-
-
-
-
1
LOVD
+?/.
-
c.12del
r.(?)
p.(Met5Cysfs*54)
Both (homozygous)
-
likely pathogenic
g.155665490del
g.154744338del
LRAT c.12del, p.[Met5Cysfs*53]
-
LRAT_000011
homozygous
PubMed: Talib 2019
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
retinal disease
III
PubMed: Talib 2019
-
F
-
-
Dutch
-
-
-
-
1
LOVD
+?/.
-
c.12del
r.(?)
p.(Met5Cysfs*54)
Both (homozygous)
-
likely pathogenic
g.155665490del
g.154744338del
LRAT c.12del, p.[Met5Cysfs*53]
-
LRAT_000011
homozygous
PubMed: Talib 2019
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
retinal disease
IV
PubMed: Talib 2019
-
M
-
-
Dutch
-
-
-
-
1
LOVD
+?/.
-
c.12del
r.(?)
p.(Met5Cysfs*54)
Both (homozygous)
-
likely pathogenic
g.155665490del
g.154744338del
LRAT c.12del, p.[Met5Cysfs*53]
-
LRAT_000011
homozygous
PubMed: Talib 2019
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
retinal disease
V
PubMed: Talib 2019
-
F
-
-
Dutch
-
-
-
-
1
LOVD
+?/.
-
c.12del
r.(?)
p.(Met5Cysfs*54)
Both (homozygous)
-
likely pathogenic
g.155665490del
g.154744338del
LRAT c.12del, p.[Met5Cysfs*53]
-
LRAT_000011
homozygous
PubMed: Talib 2019
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
retinal disease
VI
PubMed: Talib 2019
-
M
-
-
Dutch
-
-
-
-
1
LOVD
+?/.
-
c.12del
r.(?)
p.(Met5Cysfs*54)
Both (homozygous)
-
likely pathogenic
g.155665490del
g.154744338del
LRAT c.12del, p.[Met5Cysfs*53]
-
LRAT_000011
homozygous
PubMed: Talib 2019
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
retinal disease
VII
PubMed: Talib 2019
-
F
-
-
Dutch
-
-
-
-
1
LOVD
+?/.
-
c.12del
r.(?)
p.(Met5Cysfs*54)
Both (homozygous)
-
likely pathogenic
g.155665490del
g.154744338del
LRAT c.12del, p.[Met5Cysfs*53]
-
LRAT_000011
homozygous
PubMed: Talib 2019
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
retinal disease
VIII
PubMed: Talib 2019
-
M
-
-
Dutch
-
-
-
-
1
LOVD
+?/.
-
c.12del
r.(?)
p.(Met5Cysfs*54)
Both (homozygous)
-
likely pathogenic
g.155665490del
g.154744338del
LRAT c.12del, p.[Met5Cysfs*53]
-
LRAT_000011
homozygous
PubMed: Talib 2019
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
retinal disease
IX
PubMed: Talib 2019
-
M
-
-
Dutch
-
-
-
-
1
LOVD
+?/.
-
c.12del
r.(?)
p.(Met5Cysfs*54)
Both (homozygous)
-
likely pathogenic
g.155665490del
g.154744338del
LRAT c.12del, p.[Met5Cysfs*53]
-
LRAT_000011
homozygous
PubMed: Talib 2019
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
retinal disease
X
PubMed: Talib 2019
-
F
-
-
Dutch
-
-
-
-
1
LOVD
+?/.
-
c.12del
r.(?)
p.(Met5Cysfs*54)
Both (homozygous)
-
likely pathogenic
g.155665490del
g.154744338del
LRAT c.12del, p.[Met5Cysfs*53]
-
LRAT_000011
homozygous
PubMed: Talib 2019
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
retinal disease
XI
PubMed: Talib 2019
-
F
-
-
Dutch
-
-
-
-
1
LOVD
+?/.
-
c.12del
r.(?)
p.(Met5Cysfs*54)
Both (homozygous)
-
likely pathogenic
g.155665490del
g.154744338del
LRAT c.12del, p.[Met5Cysfs*53]
-
LRAT_000011
homozygous
PubMed: Talib 2019
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
retinal disease
XII
PubMed: Talib 2019
-
F
-
-
Dutch
-
-
-
-
1
LOVD
+/.
-
c.40_41delGAinsTT
r.(?)
p.(Glu14Leu)
Both (homozygous)
-
pathogenic
g.155665518_155665519delinsTT
g.154744366_154744367delinsTT
LRAT c.40_41delGAinsTT, p.Glu14Leu
-
LRAT_000043
homozygous
PubMed: Scholl 2015
-
-
Unknown
?
-
-
-
-
DNA
?
-
patients already genotyped for clinical trials
retinal disease
302
PubMed: Scholl 2015
F
-
-
-
-
-
-
-
daily oral dose of 40 mg/m2/day 9-cis-retinyl acetate (QLT091001)
1
LOVD
+?/.
-
c.40_41delinsTT
r.(?)
p.(Glu14Leu)
Both (homozygous)
-
likely pathogenic
g.155665518_155665519delinsTT
g.154744366_154744367delinsTT
LRAT c.40-41delGAinsTT, p.Glu14Leu
-
LRAT_000043
homozygous
PubMed: Borman 2012
-
-
Germline
yes
-
-
-
-
DNA
arraySNP, SEQ
blood
Sanger sequencing
retinal disease
2
PubMed: Borman 2012
-
F
yes
-
white
-
-
-
-
1
LOVD
-/.
-
c.74T>A
r.(?)
p.(Phe25Tyr)
Unknown
-
benign
g.155665552T>A
g.154744400T>A
LRAT(NM_004744.5):c.74T>A (p.F25Y)
-
LRAT_000012
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.74T>A
r.(?)
p.(Phe25Tyr)
Unknown
-
VUS
g.155665552T>A
g.154744400T>A
-
-
LRAT_000012
-
PubMed: Wang 2014
-
rs75368761
Germline
-
-
-
-
-
DNA
SEQ-NG
-
66-gene panel
retinal disease
27
PubMed: Wang 2014
-
F
-
United States
-
-
-
-
-
1
LOVD
?/.
-
c.74T>A
r.(?)
p.(Phe25Tyr)
Unknown
-
VUS
g.155665552T>A
g.154744400T>A
-
-
LRAT_000012
-
PubMed: Wang 2014
-
rs75368761
Germline
-
-
-
-
-
DNA
SEQ-NG
-
66-gene panel
retinal disease
50
PubMed: Wang 2014
-
M
-
United States
-
-
-
-
-
1
LOVD
+?/.
-
c.74T>A
r.(?)
p.(Phe25Tyr)
Unknown
-
likely pathogenic
g.?
-
c.74T>A
-
TRAPPC11_000000
-
PubMed: Song-2011
-
rs75368761
Unknown
-
-
-
-
-
DNA
arraySEQ, PCR
blood
-
retinal disease
-
PubMed: Song-2011
-
F
-
-
-
-
-
-
-
1
LOVD
?/.
-
c.111C>G
r.(?)
p.(Asn37Lys)
Unknown
-
VUS
g.155665589C>G
g.154744437C>G
-
-
LRAT_000009
-
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.148G>C
r.(?)
p.(Val50Leu)
Unknown
-
VUS
g.155665626G>C
g.154744474G>C
LRAT(NM_004744.4):c.148G>C (p.V50L)
-
LRAT_000013
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
2
c.157_159dup
r.(?)
p.(Val53dup)
Both (homozygous)
-
likely pathogenic
g.155665635_155665637dup
g.154744483_154744485dup
c.157_159dup, p.(Val53dup)
-
LRAT_000036
Homozygous
PubMed: Tayebi 2019
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG-I
blood
108-gene panel targeted resequencing using MIPs library prep
retinal disease
066853
PubMed: Tayebi 2019
-
-
-
Iran
-
-
-
-
-
1
LOVD
+?/.
2
c.163C>G
r.(?)
p.(Arg55Gly)
Both (homozygous)
-
likely pathogenic
g.155665641C>G
g.154744489C>G
-
-
LRAT_000008
-
-
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG-I
-
Gene Panel (79 IRD genes)
LCA
IRD4.0_#21
Manuscript under review (González-del Pozo et al., 2018)
-
F
yes
Spain
-
-
-
-
-
1
María González-del Pozo
+?/.
-
c.163C>G
r.(?)
p.(Arg55Gly)
Both (homozygous)
-
likely pathogenic
g.155665641C>G
g.154744489C>G
M7: c.163C > G; p.Arg55Gly
-
LRAT_000008
-
PubMed: Gonzalez del Pozo 2018
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
blood
solved
retinal disease
D (II:1)
PubMed: Gonzalez del Pozo 2018
-
?
yes
Spain
-
-
-
-
-
1
LOVD
+?/.
2
c.163C>G
r.(?)
p.(Arg55Gly)
Both (homozygous)
-
likely pathogenic
g.155665641C>G
g.154744489C>G
LRAT Ex.2 c.163C>G p.(Arg55Gly), Ex.2 c.163C>G p.(Arg55Gly)
-
LRAT_000008
homozygous
PubMed: Martin Merida 2019
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
SEQ-NG-I
-
-
retinal disease
RP-0479
PubMed: Martin Merida 2019
-
?
-
Spain
-
-
-
-
-
1
LOVD
?/.
-
c.163C>G
r.(?)
p.(Arg55Gly)
Unknown
ACMG
VUS
g.155665641C>G
g.154744489C>G
LRAT c.163C>G; p.Arg55GIy
-
LRAT_000008
homozygous
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
59
PubMed: Sallum 2020
-
?
-
Brazil
-
-
-
-
-
1
LOVD
?/.
-
c.163C>G
r.(?)
p.(Arg55Gly)
Unknown
ACMG
VUS
g.155665641C>G
g.154744489C>G
LRAT c.163C>G; p.Arg55GIy
-
LRAT_000008
homozygous
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
116
PubMed: Sallum 2020
-
?
-
Brazil
-
-
-
-
-
1
LOVD
+?/.
-
c.163C>T
r.(?)
p.(Arg55Trp)
Both (homozygous)
-
likely pathogenic
g.155665641C>T
g.154744489C>T
-
-
LRAT_000025
-
PubMed: Oishi 2014
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
193-gene panel
retinal disease
K1153
PubMed: Oishi 2014
family
-
-
Japan
-
-
-
-
-
1
LOVD
+/.
2
c.163C>T
r.(?)
p.(Arg55Trp)
Paternal (confirmed)
ACMG
pathogenic
g.155665641C>T
g.154744489C>T
c.163C>T
-
LRAT_000025
heterozygous, causative variant
PubMed: Hosono 2018
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG, SEQ
blood
Targeted next-generation sequencing
retinal disease
JU1039
PubMed: Hosono 2018
proband, family JIKEI-145
F
no
Japan
Asian
-
-
-
-
1
LOVD
+/.
2
c.163C>T
r.(?)
p.(Arg55Trp)
Paternal (confirmed)
ACMG
pathogenic
g.155665641C>T
g.154744489C>T
c.163C>T
-
LRAT_000025
heterozygous, causative variant
PubMed: Hosono 2018
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG, SEQ
blood
Targeted next-generation sequencing
retinal disease
JU1040
PubMed: Hosono 2018
sister of JU1039, family JIKEI-145
F
no
Japan
Asian
-
-
-
-
1
LOVD
-/.
-
c.174G>C
r.(?)
p.(Leu58=)
Unknown
-
benign
g.155665652G>C
g.154744500G>C
LRAT(NM_004744.5):c.174G>C (p.L58=)
-
LRAT_000003
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.181T>A
r.(?)
p.(Tyr61Asn)
Both (homozygous)
-
likely pathogenic
g.155665659T>A
g.154744507T>A
LRAT c.181T>A, p.Tyr61Asp
-
LRAT_000044
homozygous
PubMed: Borman 2012
-
-
Germline
yes
-
-
-
-
DNA
arraySNP, SEQ
blood
Sanger sequencing
retinal disease
3
PubMed: Borman 2012
-
M
no
-
white
-
-
-
-
1
LOVD
+/.
-
c.181T>A
r.(?)
p.(Tyr61Asn)
Both (homozygous)
-
pathogenic
g.155665659T>A
g.154744507T>A
LRAT c.181T>A, p.Tyr61Asp
-
LRAT_000044
homozygous
PubMed: Scholl 2015
-
-
Unknown
?
-
-
-
-
DNA
?
-
patients already genotyped for clinical trials
retinal disease
111
PubMed: Scholl 2015
M
-
-
-
-
-
-
-
daily oral dose of 40 mg/m2/day 9-cis-retinyl acetate (QLT091001)
1
LOVD
?/.
-
c.215A>C
r.(?)
p.(His72Pro)
Unknown
-
VUS
g.155665693A>C
-
-
-
LRAT_000051
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1
c.217_218del
r.?
p.(Met73Aspfs*48)
Both (homozygous)
-
pathogenic
g.155665695_155665696del
-
c.217_218del
-
LRAT_000030
-
PubMed: Wang-2013
-
-
Unknown
-
-
-
-
-
DNA
SEQ-NG
blood
-
retinal disease
-
PubMed: Wang-2013
-
-
no
-
-
-
-
-
-
1
Julia Lopez
+?/.
-
c.217_218delAT
r.(?)
p.(Met73Aspfs*48)
Both (homozygous)
-
likely pathogenic
g.155665695_155665696del
g.154744543_154744544del
LRAT c.217_218delAT, causing a frameshift at codon 73, which leads to a premature stop at alanine 120
-
LRAT_000030
homozygous
PubMed: Senechal 2006
-
-
Germline
yes
-
-
-
-
DNA
DHPLC, SEQ
blood
-
retinal disease
2
PubMed: Senechal 2006
-
M
yes
-
-
-
-
-
-
1
LOVD
+?/.
-
c.233_242del
r.(?)
p.(Leu78ArgfsTer85)
Unknown
-
likely pathogenic
g.155665711_155665720del
g.154744559_154744568del
-
-
LRAT_000022
-
PubMed: Patel 2016
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
gene panel
retinal disease
12DG1182
PubMed: Patel 2016
-
-
-
Saudi Arabia
-
-
-
-
-
1
LOVD
+/.
-
c.233_242del
r.(?)
p.(Leu78Argfs*85)
Both (homozygous)
ACMG
pathogenic (recessive)
g.155665711_155665720del
g.154744559_154744568del
NM_004744.3:c.233_242del; p.(Leu78Argfs*85)
-
LRAT_000022
-
PubMed: Patel 2018
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
-
322 eye disease gene panel
retinal disease
11DG0632
PubMed: Patel 2018
-
-
yes
Saudi Arabia
-
-
-
-
-
1
LOVD
+/.
1
c.233_242del
r.(?)
p.(Leu78Argfs*85)
Both (homozygous)
-
pathogenic
g.155665711_155665720del
-
c.233_242del
-
LRAT_000022
-
PubMed: Eisenberger-2013
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I, SEQ-NG-R, SEQ
blood
-
retinal disease
-
PubMed: Eisenberger-2013
-
M
yes
Saudi Arabia
-
-
-
-
-
1
LOVD
?/.
1
c.236T>G
r.(?)
p.?
Unknown
-
VUS
g.155665714T>G
-
c.236T>G (p.(Leu79Trp))
-
LRAT_000039
-
PubMed: SkorczykWerner-2020
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
-
retinal disease
-
PubMed: SkorczykWerner 2020
-
F
-
-
Polish
-
-
-
-
1
LOVD
+/.
-
c.241_242del
r.(?)
p.(Leu81Aspfs*40)
Both (homozygous)
ACMG
pathogenic (recessive)
g.155665719_155665720del
g.154744567_154744568del
NM_004744.3:c.241_242del; p.(Leu81Aspfs*40)
-
LRAT_000029
-
PubMed: Patel 2018
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
-
322 eye disease gene panel (negative), WES
retinal disease
12DG0405
PubMed: Patel 2018
-
-
likely
Saudi Arabia
-
-
-
-
-
1
LOVD
+?/.
-
c.264_265dup
r.(?)
p.(Gln89Argfs*78)
Unknown
ACMG
likely pathogenic
g.155665742_155665743dup
g.154744590_154744591dup
LRAT c.264_265dup, p.(Gln89Argfs*78)
-
LRAT_000033
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
422
PubMed: Jespersgaar 2019
-
?
-
Denmark
-
-
-
-
-
1
LOVD
?/.
-
c.271G>A
r.(?)
p.(Val91Met)
Unknown
-
VUS
g.155665749G>A
g.154744597G>A
-
-
LRAT_000026
-
PubMed: Wang 2014
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
66-gene panel
retinal disease
36
PubMed: Wang 2014
-
M
-
United States
-
-
-
-
-
1
LOVD
?/.
-
c.298G>A
r.(?)
p.(Gly100Ser)
Unknown
ACMG
VUS
g.155665776G>A
g.154744624G>A
LRAT c.298G>A; p.GIy100Ser
-
LRAT_000038
homozygous
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
55
PubMed: Sallum 2020
-
?
-
Brazil
-
-
-
-
-
1
LOVD
?/.
-
c.298G>A
r.(?)
p.(Gly100Ser)
Unknown
ACMG
VUS
g.155665776G>A
g.154744624G>A
LRAT c.298G>A; p.GIy100Ser
-
LRAT_000038
homozygous
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
57
PubMed: Sallum 2020
-
?
-
Brazil
-
-
-
-
-
1
LOVD
?/.
-
c.298G>A
r.(?)
p.(Gly100Ser)
Unknown
ACMG
VUS
g.155665776G>A
g.154744624G>A
LRAT c.298G>A; p.GIy100Ser
-
LRAT_000038
homozygous
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
58
PubMed: Sallum 2020
-
?
-
Brazil
-
-
-
-
-
1
LOVD
?/.
-
c.298G>A
r.(?)
p.(Gly100Ser)
Unknown
ACMG
VUS
g.155665776G>A
g.154744624G>A
LRAT c.298G>A; p.GIy100Ser
-
LRAT_000038
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
56
PubMed: Sallum 2020
-
?
-
Brazil
-
-
-
-
-
1
LOVD
+/.
-
c.298G>T
r.(?)
p.(Gly100Cys)
Parent #2
-
pathogenic
g.155665776G>T
g.154744624G>T
-
-
LRAT_000023
-
PubMed: Zhao 2015
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
86-gene panel
retinal disease
Rp1
PubMed: Zhao 2015
simplex case
-
-
Northern Ireland
-
-
-
-
-
1
LOVD
?/.
-
c.299G>A
r.(?)
p.(Gly100Asp)
Unknown
-
VUS
g.155665777G>A
g.154744625G>A
-
-
LRAT_000006
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.300C>T
r.(?)
p.(Gly100=)
Unknown
-
likely benign
g.155665778C>T
g.154744626C>T
LRAT(NM_004744.4):c.300C>T (p.G100=)
-
LRAT_000014
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.312del
r.(?)
p.(Val105Trpfs*61)
Both (homozygous)
-
likely pathogenic (recessive)
g.155665790del
g.154744638del
-
-
LRAT_000015
-
PubMed: Holtan 2020
-
-
Germline
-
1/899 cases
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Holtan 2020
1 homozygous patient
-
-
Norway
-
-
-
-
-
1
Global Variome, with Curator vacancy
?/.
-
c.314T>G
r.(?)
p.(Val105Gly)
Unknown
-
VUS
g.155665792T>G
-
LRAT(NM_004744.4):c.314T>G (p.V105G)
-
LRAT_000019
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.316G>A
r.(?)
p.(Ala106Thr)
Both (homozygous)
-
VUS
g.155665794G>A
g.154744642G>A
LRAT c.316G>A, p.Ala106Thr
-
LRAT_000045
homozygous
PubMed: Borman 2012
-
-
Unknown
?
-
-
-
-
DNA
arraySNP, SEQ
blood
Sanger sequencing
retinal disease
4
PubMed: Borman 2012
-
F
no
-
Caribbean
-
-
-
-
1
LOVD
+?/.
-
c.325C>T
r.(?)
p.(Arg109Cys)
Unknown
-
likely pathogenic
g.155665803C>T
g.154744651C>T
LRAT p.R109C (c.371C>T)
-
LRAT_000040
error in annotation: p.R109C is caused by c.1984G>A and not c.1986G>A; heterozygous
PubMed: Preising 2007
-
-
Germline
yes
-
-
-
-
DNA
SSCA, SEQ
blood
-
retinal disease
293_1
PubMed: Preising 2007
family 293, individual 1
?
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.326G>T
r.(?)
p.(Arg109Leu)
Both (homozygous)
-
likely pathogenic
g.155665804G>T
g.154744652G>T
-
-
LRAT_000027
-
PubMed: Coppieters 2014
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
WES
retinal disease
Fam2
PubMed: Coppieters 2014
see paper
-
yes
Turkey
-
-
-
-
-
1
LOVD
+?/.
-
c.326G>T
r.(?)
p.(Arg109Leu)
Both (homozygous)
-
likely pathogenic
g.155665804G>T
g.154744652G>T
LRAT c.326G>T, p.[Arg109Leu]
-
LRAT_000027
homozygous
PubMed: Talib 2019
-
-
Germline
yes
-
-
-
-
DNA
arraySNP, SEQ
-
-
retinal disease
XIII
PubMed: Talib 2019
-
M
-
-
Turkish-Belgian
-
-
-
-
1
LOVD
+/.
-
c.346T>C
r.(?)
p.(Phe116Leu)
Both (homozygous)
-
pathogenic (recessive)
g.155665824T>C
-
-
-
LRAT_000020
-
PubMed: Porto 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
300-gene panel
retinal disease
Fam19PatFBP_55
PubMed: Porto 2017
proband
-
-
Brazil
-
-
-
-
-
1
LOVD
?/.
-
c.346T>C
r.(?)
p.(Phe116Leu)
Unknown
ACMG
VUS
g.155665824T>C
g.154744672T>C
LRAT c.346T>C; p.Phe116Leu
-
LRAT_000020
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
56
PubMed: Sallum 2020
-
?
-
Brazil
-
-
-
-
-
1
LOVD
?/.
-
c.346T>C
r.(?)
p.(Phe116Leu)
Unknown
ACMG
VUS
g.155665824T>C
g.154744672T>C
LRAT c.346T>C; p.Phe116Leu
-
LRAT_000020
homozygous
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
60
PubMed: Sallum 2020
-
?
-
Brazil
-
-
-
-
-
1
LOVD
+?/.
-
c.400_401del
r.(?)
p.(Lys134Glyfs*12)
Unknown
-
likely pathogenic
g.110029080T>C
g.109591275T>C
LRAT 396delAA, shifts the reading frame following codon 133 to encode 11 amino acids (unrelated to the wildtype sequence) followed by a premature stop codon
-
LRAT_000042
error in annotation, this change should be annotated as c.400_401del; heterozygous; no second allele detected
PubMed: Thompson 2001
-
-
Germline
yes
-
-
-
-
DNA
STR, SEQ
blood
-
retinal disease
2910
PubMed: Thompson 2001
-
M
no
-
-
-
-
-
-
1
LOVD
?/.
-
c.418G>A
r.(?)
p.(Glu140Lys)
Unknown
-
VUS
g.155665896G>A
g.154744744G>A
-
-
LRAT_000010
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
-
-
Germline
-
2/1204 cases with retinitis pigmentosa
-
-
-
DNA
SEQ-NG
-
-
retinal disease
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
analysis 1204 retinitis pigmentosa cases
-
-
Japan
-
-
-
-
-
2
Yoshito Koyanagi
+/.
2
c.418G>T
r.(?)
p.(Glu140*)
Both (homozygous)
-
pathogenic
g.155665896G>T
g.154744744G>T
-
-
LRAT_000002
-
PubMed: Li 2017
-
-
Germline
yes
-
-
-
-
DNA
SEQ
WBC
-
retinal disease
61076
PubMed: Li 2017
-
F
no
Pakistan
Pakistani
-
-
-
-
1
James Hejtmancik
+/.
-
c.427_428delCG
r.(?)
p.(Arg143Glufs*3)
Both (homozygous)
-
pathogenic
g.155665905_155665906del
g.154744753_154744754del
LRAT c.427_428delCG, p.Arg143ValfsX3
-
LRAT_000046
homozygous
PubMed: Scholl 2015
-
-
Unknown
?
-
-
-
-
DNA
?
-
patients already genotyped for clinical trials
retinal disease
117
PubMed: Scholl 2015
M
-
-
-
-
-
-
-
daily oral dose of 40 mg/m2/day 9-cis-retinyl acetate (QLT091001)
1
LOVD
+/.
1
c.449dup
r.(?)
p.(Phe151Leufs*33)
Both (homozygous)
-
pathogenic
g.155665927dup
-
c.449dupG
-
LRAT_000032
-
PubMed: Eisenberger-2013
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I, SEQ-NG-R, SEQ
blood
-
retinal disease
-
PubMed: Eisenberger-2013
-
F
yes
Turkey
-
-
-
-
-
1
LOVD
+?/.
-
c.449dup
r.(?)
p.(Phe151Leufs*33)
Parent #1
-
likely pathogenic
g.155665927dup
g.154744775dup
LRAT, variant 1: c.449dup/p.F151Lfs*33, variant 2: c.449dup/p.F151Lfs*33
-
LRAT_000032
solved, homozygous
PubMed: Weisschuh 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
blood
RET2 targeted sequencing panel - see paper
retinal disease
1132
PubMed: Weisschuh 2020
Filing key number: 780, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given
F
-
Germany
-
-
-
-
-
1
LOVD
?/.
-
c.473G>A
r.(?)
p.(Trp158*)
Both (homozygous)
-
VUS
g.155665951G>A
g.154744799G>A
-
-
LRAT_000021
-
PubMed: Ellingford 2016
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
105-gene panel
retinal disease
12004275
PubMed: Ellingford 2016
patient
-
-
-
-
-
-
-
-
1
LOVD
+?/.
2
c.487C>G
r.(?)
p.(His163Asp)
Both (homozygous)
-
likely pathogenic
g.155665965C>G
g.154744813C>G
c.487C>G, p.(His163Asp)
-
LRAT_000037
Homozygous
PubMed: Tayebi 2019
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG-I
blood
108-gene panel targeted resequencing using MIPs library prep
retinal disease
066852
PubMed: Tayebi 2019
-
-
-
Iran
-
-
-
-
-
1
LOVD
+?/.
-
c.487C>G
r.(?)
p.(His163Asp)
Parent #1
-
likely pathogenic
g.155665965C>G
g.154744813C>G
LRAT, variant 1: c.487C>G/p.H163D, variant 2: c.487C>G/p.H163D
-
LRAT_000037
possibly solved, homozygous
PubMed: Weisschuh 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
blood
RET8 targeted sequencing panel - see paper
retinal disease
793
PubMed: Weisschuh 2020
Filing key number: 312, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given
M
-
Germany
-
-
-
-
-
1
LOVD
?/.
-
c.488A>T
r.(?)
p.(His163Leu)
Both (homozygous)
ACMG
VUS
g.155665966A>T
g.154744814A>T
-
-
LRAT_000050
ACMG PM2, PM5
PubMed: Weisschuh 2024
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WGS
?
LCA-156
PubMed: Weisschuh 2024
patient, no family history
F
-
Germany
-
-
-
-
-
1
Johan den Dunnen
-?/.
-
c.518C>T
r.(?)
p.(Pro173Leu)
Unknown
-
likely benign
g.155665996C>T
g.154744844C>T
LRAT c.518C>T, P173L
-
LRAT_000041
heterozygous; no second allele detected
PubMed: Senechal 2006
-
-
Unknown
?
-
-
-
-
DNA
DHPLC, SEQ
blood
-
retinal disease
1
PubMed: Senechal 2006
-
F
-
-
-
-
-
-
-
1
LOVD
+/.
-
c.519del
r.(?)
p.(Ile174SerfsTer12)
Unknown
-
pathogenic
g.155665997del
g.154744845del
-
-
LRAT_000007
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
1
c.519del
r.(?)
p.(Ile174Serfs*12)
Both (homozygous)
-
VUS
g.155665997del
-
c.519del
-
LRAT_000007
-
PubMed: Collin-2011
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ, arraySNP
blood
-
retinal disease
-
PubMed: Collin-2011
-
F
-
Netherlands
-
-
-
-
-
1
LOVD
+/.
-
c.519delG
r.(?)
p.(Ile174Serfs*12)
Both (homozygous)
-
pathogenic
g.155665997del
g.154744845del
LRAT c.519delG, p.Ile174SerfsX12
-
LRAT_000007
homozygous
PubMed: Scholl 2015
-
-
Unknown
?
-
-
-
-
DNA
?
-
patients already genotyped for clinical trials
retinal disease
202
PubMed: Scholl 2015
F
-
-
-
-
-
-
-
daily oral dose of 40 mg/m2/day 9-cis-retinyl acetate (QLT091001)
1
LOVD
-?/.
-
c.519G>T
r.(?)
p.(Pro173=)
Unknown
-
likely benign
g.155665997G>T
-
LRAT(NM_004744.5):c.519G>T (p.P173=)
-
LRAT_000049
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.525T>A
r.(?)
p.(Ser175Arg)
Both (homozygous)
-
likely pathogenic
g.155666003T>A
g.154744851T>A
LRAT c.525T>A, p.Ser175Arg
-
LRAT_000047
homozygous
PubMed: Borman 2012
-
-
Germline
yes
-
-
-
-
DNA
arraySNP, SEQ
blood
APEX analysis
retinal disease
1
PubMed: Borman 2012
-
M
yes
-
South-east Asian
-
-
-
-
1
LOVD
+?/.
-
c.525T>A
r.(?)
p.(Ser175Arg)
Both (homozygous)
-
likely pathogenic
g.155666003T>A
g.154744851T>A
LRAT T->A transversion at nucleotide 525, (S175R)
-
LRAT_000047
homozygous; S175R mutation leads to loss of LRAT activity, possibly because an essential nucleophilic residue near the active site is lost
PubMed: Thompson 2001
-
-
Germline
yes
-
-
-
-
DNA
STR, SEQ
blood
-
retinal disease
arRP186
PubMed: Thompson 2001
-
F
yes
-
-
-
-
-
-
1
LOVD
+?/.
-
c.525T>A
r.(?)
p.(Ser175Arg)
Both (homozygous)
-
likely pathogenic
g.155666003T>A
g.154744851T>A
LRAT T->A transversion at nucleotide 526, (S175R)
-
LRAT_000047
homozygous; S175R mutation leads to loss of LRAT activity, possibly because an essential nucleophilic residue near the active site is lost
PubMed: Thompson 2001
-
-
Germline
yes
-
-
-
-
DNA
STR, SEQ
blood
-
retinal disease
arRP824
PubMed: Thompson 2001
-
F
yes
-
-
-
-
-
-
1
LOVD
+/.
-
c.525T>A
r.(?)
p.(Ser175Arg)
Unknown
-
pathogenic
g.155666003T>A
g.154744851T>A
LRAT S175R
-
LRAT_000047
global secondary structure of tLRAT as well as its membrane binding properties remain almost unchanged with the S175R mutation, but no enzymatic activity was observed
PubMed: Bussieres 2007
-
-
In vitro (cloned)
?
-
-
-
-
DNA
STR, SEQ
blood
-
retinal disease
?
PubMed: Bussieres 2007
cell line investigation (HEK cells)
-
-
-
-
-
-
-
-
1
LOVD
+/.
-
c.525T>A
r.(?)
p.(Ser175Arg)
Both (homozygous)
-
pathogenic
g.155666003T>A
g.154744851T>A
LRAT c.525T>A, p.Ser175Arg
-
LRAT_000047
homozygous
PubMed: Scholl 2015
-
-
Unknown
?
-
-
-
-
DNA
?
-
patients already genotyped for clinical trials
retinal disease
110
PubMed: Scholl 2015
M
-
-
-
-
-
-
-
daily oral dose of 40 mg/m2/day 9-cis-retinyl acetate (QLT091001)
1
LOVD
+/.
2
c.538A>T
r.(?)
p.(Lys180*)
Both (homozygous)
-
pathogenic
g.155666016A>T
g.154744864A>T
-
-
LRAT_000001
-
PubMed: Li 2017
-
-
Germline
yes
-
-
-
-
DNA
SEQ
WBC
-
retinal disease
61120
PubMed: Li 2017
-
M
yes
Pakistan
Pakistani
-
-
-
-
1
James Hejtmancik
-?/.
-
c.541-37G>A
r.(=)
p.(=)
Unknown
-
likely benign (recessive)
g.155670099G>A
-
g.155670099G>A*
-
LRAT_000035
-
PubMed: Anasagasti-2013
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
-
PubMed: Anasagasti-2013
-
-
-
Spain
-
-
-
-
-
1
LOVD
-?/.
2i
c.541-15T>G
r.(?)
p.(?)
Both (homozygous)
-
pathogenic
g.155670121T>G
g.154748969T>G
LRAT c.541-15T>G
-
LRAT_000048
homozygous; exon 3 skipping in minigene assays
PubMed: Chen 2018
-
-
Germline
yes
-
-
-
-
DNA
STR, SEQ
blood
-
retinal disease
fam61254pat7
PubMed: Chen 2018
family 61254
M
yes
Pakistan
-
-
-
-
-
1
LOVD
-?/.
2i
c.541-15T>G
r.(?)
p.(?)
Both (homozygous)
-
pathogenic
g.155670121T>G
g.154748969T>G
LRAT c.541-15T>G
-
LRAT_000048
homozygous; exon 3 skipping in minigene assays
PubMed: Chen 2018
-
-
Germline
yes
-
-
-
-
DNA
STR, SEQ
blood
-
retinal disease
fam61254pat8
PubMed: Chen 2018
family 61254
M
yes
Pakistan
-
-
-
-
-
1
LOVD
-?/.
2i
c.541-15T>G
r.(?)
p.(?)
Both (homozygous)
-
pathogenic
g.155670121T>G
g.154748969T>G
LRAT c.541-15T>G
-
LRAT_000048
homozygous; exon 3 skipping in minigene assays
PubMed: Chen 2018
-
-
Germline
yes
-
-
-
-
DNA
STR, SEQ
blood
-
retinal disease
fam61254pat32
PubMed: Chen 2018
family 61254
M
yes
Pakistan
-
-
-
-
-
1
LOVD
-?/.
2i
c.541-15T>G
r.(?)
p.(?)
Both (homozygous)
-
pathogenic
g.155670121T>G
g.154748969T>G
LRAT c.541-15T>G
-
LRAT_000048
homozygous; exon 3 skipping in minigene assays
PubMed: Chen 2018
-
-
Germline
yes
-
-
-
-
DNA
STR, SEQ
blood
-
retinal disease
fam61254pat33
PubMed: Chen 2018
family 61254
F
yes
Pakistan
-
-
-
-
-
1
LOVD
-?/.
2i
c.541-15T>G
r.(?)
p.(?)
Both (homozygous)
-
pathogenic
g.155670121T>G
g.154748969T>G
LRAT c.541-15T>G
-
LRAT_000048
homozygous; exon 3 skipping in minigene assays
PubMed: Chen 2018
-
-
Germline
yes
-
-
-
-
DNA
STR, SEQ
blood
-
retinal disease
fam61254pat42
PubMed: Chen 2018
family 61254
F
yes
Pakistan
-
-
-
-
-
1
LOVD
-?/.
2i
c.541-15T>G
r.(?)
p.(?)
Both (homozygous)
-
pathogenic
g.155670121T>G
g.154748969T>G
LRAT c.541-15T>G
-
LRAT_000048
homozygous; exon 3 skipping in minigene assays
PubMed: Chen 2018
-
-
Germline
yes
-
-
-
-
DNA
STR, SEQ
blood
-
retinal disease
fam61254pat43
PubMed: Chen 2018
family 61254
F
yes
Pakistan
-
-
-
-
-
1
LOVD
+/.
-
c.554_555del
r.(?)
p.(Val185Glufs*6)
Unknown
-
pathogenic
g.155670149_155670150del
-
LRAT(NM_004744.4):c.554_555delTG (p.V185Efs*6)
-
LRAT_000034
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.569G>A
r.(?)
p.(Arg190His)
Parent #1
-
pathogenic
g.155670164G>A
g.154749012G>A
-
-
LRAT_000024
-
PubMed: Zhao 2015
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
86-gene panel
retinal disease
Rp1
PubMed: Zhao 2015
simplex case
-
-
Northern Ireland
-
-
-
-
-
1
LOVD
+?/.
-
c.569G>A
r.(?)
p.(Arg190His)
Unknown
-
likely pathogenic
g.155670164G>A
g.154749012G>A
LRAT p.R190H (c.605G>A)
-
LRAT_000024
error in annotation: p.R190H is caused by c.569G>A and not c.605G>A; heterozygous
PubMed: Preising 2007
-
-
Germline
yes
-
-
-
-
DNA
SSCA, SEQ
blood
-
retinal disease
293_1
PubMed: Preising 2007
family 293, individual 1
?
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.569G>A
r.(?)
p.(Arg190His)
Unknown
-
likely pathogenic
g.155670164G>A
-
-
-
LRAT_000024
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1
c.614C>A
r.(?)
p.?
Both (homozygous)
-
pathogenic
g.155670209C>A
-
p.S205Yfs×27
-
LRAT_000031
-
PubMed: Wang-2013
-
-
Unknown
-
-
-
-
-
DNA
SEQ-NG
blood
-
retinal disease
-
PubMed: Wang-2013
novel LOF mutations
-
no
-
-
-
-
-
-
1
Julia Lopez
+/.
-
c.614_615del
r.(?)
p.(Ser205Tyrfs*51)
Both (homozygous)
ACMG
pathogenic
g.155670209_155670210del
g.154749057_154749058del
614_615delCT
-
LRAT_000017
ACMG PVS1, PM2, PP1PP4
PubMed: Zenteno 2020
-
-
Germline
-
1/143 cases
-
-
-
DNA
SEQ, SEQ-NG
-
199 gene panel
retinal disease
1274
PubMed: Zenteno 2020
-
-
-
Mexico
-
-
-
-
-
1
Johan den Dunnen
-/.
-
c.627G>A
r.(?)
p.(Thr209=)
Unknown
-
benign
g.155670222G>A
g.154749070G>A
LRAT(NM_004744.5):c.627G>A (p.T209=)
-
LRAT_000004
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
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