Global Variome shared LOVD
RDH5 (retinol dehydrogenase 5 (11-cis/9-cis))
LOVD v.3.0 Build 30b [
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Curator:
Markus Preising
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This database is one of the
"Eye disease"
gene variant databases.
The variants shown are described using the NM_002905.3 transcript reference sequence.
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Effect
: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.
Exon
: number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = from intron 2 to intron 7, 8i_9 = intron 8/exon 9 boundary, _1 = 5' to exon 1, 18_ = 3' of exon 18, _1_18_ = encompassing the entire 18-exon gene
DNA change (cDNA)
: description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup. For deletions/duplications extending beyond the reference transcript resp. {0}/{2} is used to replace del/dup. Extent of the deletion/duplication should be specified using the genomic description (g.). "-" indicates the variant described on genomic level does not affect the coding DNA reference sequence.
RNA change
: description of variant at RNA level (following HGVS recommendations).
r.123c>u
r.? = unknown
r.(?) = RNA not analysed but probably transcribed copy of DNA variant
r.spl? = RNA not analysed but variant probably affects splicing
r.(spl?) = RNA not analysed but variant may affect splicing
r.0? = change expected to abolish transcription
Protein
: description of variant at protein level (following HGVS recommendations).
p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
p.Arg345Pro = change derived from RNA analysis
p.? = unknown effect
p.0? = probably no protein produced
Allele
: On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.
Classification method
: The method used for the clinical classification of this variant.
All options:
ACMG
ACGS
EAHAD-CFDB
ENIGMA
IARC
InSiGHT
kConFab
other
Clinical classification
: Clinical classification of variant, preferably based on standardised criteria (e.g. ACMG), directed on the clinical consequences as published/submitted, indicated using an enriched system including inheritance: e.g. pathogenic, pathogenic (dominant), pathogenic (recessive), pathogenic (!), pathogenic (maternal), pathogenic (paternal). Standard inheritance is covered by dominant/recessive, imprinting by maternal/paternal. A '!' warns for exceptional circumstances to be explained in the 'Remarks' field (low penetrance, variants pathogenic in heterozygous state only, hypomorphic/hypermorphic variants, protective variants, etc.). Non-disease consequences (e.g. drug metabolism (pharmacogenetics), risk factor, blood group, tasting bitter) are indicated using additions to the benign classification; benign (dominant), benign (recessive), benign (!), etc. The value 'association' is used for variants associated with a phenotype and 'NA' for variants from in vitro/in silico records. NOTE: classification may differ from the opinion of the curator as given in a variant SUMMARY-record or the 'Functional effect concluded'). NOTE: pathogenic/likely pathogenic should go together with "variant (probably) affects function" In ClassFunctional.
All options:
pathogenic
pathogenic (dominant)
pathogenic (recessive)
pathogenic (!)
pathogenic (maternal)
pathogenic (paternal)
likely pathogenic
likely pathogenic (dominant)
likely pathogenic (recessive)
likely pathogenic (!)
likely pathogenic (maternal)
likely pathogenic (paternal)
VUS
VUS (!)
likely benign
likely benign (dominant)
likely benign (recessive)
likely benign (!)
likely benign (maternal)
likely benign (paternal)
benign
benign (dominant)
benign (recessive)
benign (!)
benign (maternal)
benign (paternal)
conflicting
association
NA
DNA change (genomic) (hg19)
: HGVS description of variant at DNA level, based on the genomic (chromosomal) DNA reference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
DNA change (hg38)
: HGVS description of variant at DNA level, based on the hg38 genomic (chromosomal) eference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
Published as
: listed only when different from "DNA change"; variant as reported originally (e.g. 521delT). Variants seen in animal models, tested in vitro, predicted from RNA analysis, etc. are described between brackets like c.(456C>G)
ISCN
: description of the variant according to ISCN nomenclature
DB-ID
: database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro
Variant remarks
: remarks regarding variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.
Reference
: publication describing the variant submitted, incl. links to OMIM, PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
ClinVar ID
: ID of variant in ClinVar database
dbSNP ID
: the dbSNP ID
Origin
: Origin of variant/record: Germline = in all cells, De novo = in all cells, but not in either parent, Germline/De novo (untested) = in all cells, parents not tested (use only when De novo is likely, e.g. isolated/sporadic cases with dominant disease), Somatic = present in a subset of cells, but not in either parent, Uniparental disomy = from parental disomy (maternal or paternal), CLASSIFICATION record = submitter only sharing variant classification (note another report may share Individual data), SUMMARY record = master summary record from curator (may link to another database), In vitro (cloned) = data resulting from in vitro functional assays, animal model = data from animal model, Artefact = false positive variant call, DUPLICATE record = variant already described on another chromosome (e.g. unbalanced translocation, duplicating transposition, 2nd fusion transcript, etc.)
All options:
Germline
De novo
Germline/De novo (untested)
Somatic
Uniparental disomy
Uniparental disomy, maternal allele
Uniparental disomy, paternal allele
CLASSIFICATION record
SUMMARY record
In vitro (cloned)
In silico
animal model
Artefact
DUPLICATE record
Unknown
Not applicable
Segregation
: Indicates whether the variant segregates with the phenotype (yes), does not segregate with the phenotype (no) or segregation is unknown (?)
All options:
? = unknown
yes = segregates with phenotype
no = does not segregate with phenotype
- = not applicable
Frequency
: frequency in which the variant was found; e.g 5/760 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested)
Re-site
: restriction enzyme recognition site created (+) or destroyed (-); e.g. BglII+;BamHI-
VIP
: variant VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Methylation
: result of methylation test; GOM (gain of methylation), LOM (loss of methylation), 30% (30% methylated). NOTE: when several tests were done mention the method as well (e.g. MS-PCR 75%)
Template
: Template(s) used to detect the sequence variant; DNA (genomic DNA), RNA (cDNA) or protein
All options:
DNA
RNA = RNA (cDNA)
protein
? = unknown
Technique
: technique(s) used to identify the sequence variant.
All options:
? = unknown
ARMS = amplification refractory mutation system
arrayCGH = array for Comparative Genomic Hybridisation
arrayMET = array for methylation analysis
arraySEQ = array for resequencing
arraySNP = array for SNP typing
arrayCNV = array for Copy Number Variation (SNP and CNV probes)
ASO = allele-specific oligo hybridisation
BESS = Base Excision Sequence Scanning
CMC = Chemical Mismatch Cleavage
COBRA = Combined Bisulfite Restriction Analysis
CSCE = Conformation Sensitive Capillary Electrophoresis
CSGE = Conformation Sensitive Gel Electrophoresis
ddF = dideoxy Fingerprinting
DGGE = Denaturing-Gradient Gel-Electrophoresis
DHPLC = Denaturing High-Performance Liquid Chromatography
DOVAM = Detection Of Virtually All Mutations (SSCA variant)
DSCA = Double-Strand DNA Conformation Analysis
DSDI = Detection Small Deletions and Insertions
EMC = Enzymatic Mismatch Cleavage
expr = expression analysis
FISH = Fluorescent In-Situ Hybridisation
FISHf = fiberFISH
HD = HeteroDuplex analysis
HPLC = High-Performance Liquid Chromatography
IEF = IsoElectric Focussing
IHC = Immuno-Histo-Chemistry
Invader = Invader assay
MAPH = Multiplex Amplifiable Probe Hybridisation
MAQ = Multiplex Amplicon Quantification
MCA = Melting Curve Analysis, high-resolution (HRMA)
microscope = microscopic analysis (karyotype)
microsat = microsatellite genotyping
minigene = expression minigene construct
MIP = Molecular Inversion Probe amplification
MIPsm = single molecule Molecular Inversion Probe amplification
MLPA = Multiplex Ligation-dependent Probe Amplification
MLPA-ms = Multiplex Ligation-dependent Probe Amplification, methylation specific
MS = mass spectrometry
Northern = Northern blotting
NUC = nuclease digestion (RNAseT1, S1)
OM = optical mapping
PAGE = Poly-Acrylamide Gel-Electrophoresis
PCR = Polymerase Chain Reaction
PCRdd = PCR, digital droplet
PCRdig = PCR + restriction enzyme digestion
PCRh = PCR, haloplex
PCRlr = PCR, long-range
PCRm = PCR, multiplex
PCRms = PCR, methylation sensitive
PCRq = PCR, quantitative (qPCR)
PCRrp = PCR, repeat-primed (RP-PCR)
PCRsqd = PCR, semi-quantitative duplex
PE = primer extension (APEX, SNaPshot)
PEms = primer extension, methylation-sensitive single-nucleotide
PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
PTT = Protein Truncation Test
RFLP = Restriction Fragment Length Polymorphisms
RT-PCR = Reverse Transcription and PCR
RT-PCRq = Reverse Transcription and PCR, quantitative
SBE = Single Base Extension
SEQ = SEQuencing (Sanger)
SEQb = bisulfite SEQuencing
SEQp = pyroSequencing
SEQms = sequencing, methylation specific
SEQ-ON = next-generation sequencing - Oxford Nanopore
SEQ-NG = next-generation sequencing
SEQ-NG-RNA = next-generation sequencing RNA
SEQ-NG-H = next-generation sequencing - Helicos
SEQ-NG-I = next-generation sequencing - Illumina/Solexa
SEQ-NG-IT = next-generation sequencing - Ion Torrent
SEQ-NG-R = next-generation sequencing - Roche/454
SEQ-NG-S = next-generation sequencing - SOLiD
SEQ-PB = next-generation sequencing - Pacific Biosciences
SNPlex = SNPlex
Southern = Southern blotting
SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
SSCAf = fluorescent SSCA (SSCP)
STR = Short Tandem Repeat
TaqMan = TaqMan assay
Western = Western blotting
- = not applicable
Tissue
: tissue type used for analysis
Remarks
: remarks regarding the screening like WGS (whole genome sequencing), WES (whole exome sequencing, gene panel (incl. a list of genes analysed), etc.
ID_report
: ID of the individual that can be publically shared, e.g. as listed in a publication
Reference
: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
Remarks
: remarks about the individual
Gender
: gender individual
All options:
? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male
Consanguinity
: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:
no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable
Country
: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:
? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)
Population
: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.
Age at death
: age at which the individual deceased (when applicable):
35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
VIP
: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Data_av
: are additional data available upon request: e.g. pedigree (yes/no/?)
Treatment
: treatment of patient
How to query this table
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Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
all entries containing 'Arg' and 'Ser'
|
Text
Arg|Ser
all entries containing 'Arg' or 'Ser'
!
Text
!fs
all entries not containing 'fs'
^
Text
^p.(Arg
all entries beginning with 'p.(Arg'
$
Text
Ser)$
all entries ending with 'Ser)'
=""
Text
=""
all entries with this field empty
=""
Text
="p.0"
all entries exactly matching 'p.0'
!=""
Text
!=""
all entries with this field not empty
!=""
Text
!="p.0"
all entries not exactly matching 'p.0?'
combination
Text
*|Ter !fs
all entries containing '*' or 'Ter' but not containing 'fs'
Date
2020
all entries matching the year 2020
|
Date
2020-03|2020-04
all entries matching March or April, 2020
!
Date
!2020-03
all entries not matching March, 2020
<
Date
<2020
all entries before the year 2020
<=
Date
<=2020-06
all entries in or before June, 2020
>
Date
>2020-06
all entries after June, 2020
>=
Date
>=2020-06-15
all entries on or after June 15th, 2020
combination
Date
2019|2020 <2020-03
all entries in 2019 or 2020, and before March, 2020
Numeric
23
all entries exactly matching 23
|
Numeric
23|24
all entries exactly matching 23 or 24
!
Numeric
!23
all entries not exactly matching 23
<
Numeric
<23
all entries lower than 23
<=
Numeric
<=23
all entries lower than, or equal to, 23
>
Numeric
>23
all entries higher than 23
>=
Numeric
>=23
all entries higher than, or equal to, 23
combination
Numeric
>=20 <30 !23
all entries with values from 20 to 29, but not equal to 23
Some more advanced examples:
Example
Matches
Asian
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian
all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
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299 entries on 3 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
-/.
-
c.-8440G>A
r.(?)
p.(=)
Unknown
-
benign
g.56105894G>A
g.55712110G>A
ITGA7(NM_001144996.1):c.-4428C>T (p.(=)), ITGA7(NM_001144997.1):c.38C>T (p.T13I)
-
ITGA7_010023
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.-8440G>A
r.(?)
p.(=)
Unknown
-
likely benign
g.56105894G>A
g.55712110G>A
ITGA7(NM_001144996.1):c.-4428C>T (p.(=)), ITGA7(NM_001144997.1):c.38C>T (p.T13I)
-
ITGA7_000017
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.-8402A>C
r.(?)
p.(=)
Unknown
-
likely benign
g.56105932A>C
g.55712148A>C
ITGA7(NM_001144997.1):c.14-14T>G (p.(=))
-
BLOC1S1_000012
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.-33+2dup
r.(?)
p.?
Both (homozygous)
-
likely pathogenic
g.56114303dup
g.55720519dup
RDH5 c.-33 + 2dup
-
RDH5_000229
homozygous
PubMed: Khan 2020
-
-
Germline
yes
-
-
-
-
DNA
?
-
-
retinal disease
F145-403
PubMed: Khan 2020
-
M
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.-33+2dup
r.(?)
p.?
Both (homozygous)
-
likely pathogenic
g.56114303dup
g.55720519dup
RDH5 c.-33 + 2dup
-
RDH5_000229
homozygous
PubMed: Khan 2020
-
-
Germline
yes
-
-
-
-
DNA
?
-
-
retinal disease
F145-502
PubMed: Khan 2020
-
F
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.-33+2dup
r.(?)
p.?
Both (homozygous)
-
likely pathogenic
g.56114303dup
g.55720519dup
RDH5 c.-33 + 2dup
-
RDH5_000229
homozygous
PubMed: Khan 2020
-
-
Germline
yes
-
-
-
-
DNA
?
-
-
retinal disease
F145-504
PubMed: Khan 2020
-
M
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.-33+2dup
r.(?)
p.?
Both (homozygous)
-
likely pathogenic
g.56114303dup
g.55720519dup
RDH5 c.-33 + 2dup
-
RDH5_000229
homozygous
PubMed: Khan 2020
-
-
Germline
yes
-
-
-
-
DNA
?
-
-
retinal disease
F147-501
PubMed: Khan 2020
-
F
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.-33+2dup
r.(?)
p.?
Both (homozygous)
-
likely pathogenic
g.56114303dup
g.55720519dup
RDH5 c.-33 + 2dup
-
RDH5_000229
homozygous
PubMed: Khan 2020
-
-
Germline
yes
-
-
-
-
DNA
?
-
-
retinal disease
F147-503
PubMed: Khan 2020
-
M
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.-33+2dup
r.(?)
p.?
Both (homozygous)
-
likely pathogenic
g.56114303dup
g.55720519dup
RDH5 c.-33 + 2dup
-
RDH5_000229
homozygous
PubMed: Khan 2020
-
-
Germline
yes
-
-
-
-
DNA
?
-
-
retinal disease
F147-504
PubMed: Khan 2020
-
F
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.-33+2dup
r.(?)
p.?
Both (homozygous)
-
likely pathogenic
g.56114303dup
g.55720519dup
RDH5 c.-33 + 2dup
-
RDH5_000229
homozygous
PubMed: Khan 2020
-
-
Germline
yes
-
-
-
-
DNA
?
-
-
retinal disease
F147-506
PubMed: Khan 2020
-
F
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.-33+2dup
r.(?)
p.?
Both (homozygous)
-
likely pathogenic
g.56114303dup
g.55720519dup
RDH5 c.-33 + 2dup
-
RDH5_000229
homozygous
PubMed: Khan 2020
-
-
Germline
yes
-
-
-
-
DNA
?
-
-
retinal disease
F147-402
PubMed: Khan 2020
heterozygous mother of 502, unaffected but with some symptoms
F
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.?
r.(?)
p.?
Both (homozygous)
-
likely pathogenic (recessive)
g.?
g.?
RDH5 V212(4bp del)
-
ALX1_000001
expresion levels (% wild type): 6; in vivo activity (% wild type): <1; in vitro activity: not determined; expected consequences and localisation of mutations: Frame shift, premature stop at position 246; no nucleotide annotation, extrapolated from protein
PubMed: Liden 2001
-
-
In vitro (cloned)
?
-
-
-
-
DNA
?
-
in vitro assays
retinal disease
?
PubMed: Liden 2001
protein expression and enzymatic activity of naturally occurring RDH5 mutants in COS-1 cells
-
-
-
-
-
-
-
-
1
LOVD
-?/.
-
c.31C>T
r.(?)
p.(Leu11Phe)
Unknown
-
likely benign
g.56114999C>T
g.55721215C>T
RDH5(NM_001199771.1):c.31C>T (p.L11F)
-
RDH5_000204
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.53T>C
r.(?)
p.(Leu18Pro)
Unknown
-
VUS
g.56115021T>C
-
RDH5(NM_001199771.1):c.53T>C (p.L18P)
-
BLOC1S1_000017
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/?
2
c.55A>G
r.(?)
p.(Arg19Gly)
Both (homozygous)
-
likely pathogenic
g.56115023A>G
g.55721239A>G
-
-
RDH5_000001
Homozugous missense mutation
PubMed: Sergouniotis 2011
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
fundus albipunctatus (retinitis punctata albescens (RPA))
-
PubMed: Sergouniotis 2011
?
F
?
-
Europe-C
-
-
-
-
1
Raheel Qamar
-/.
-
c.62G>A
r.(?)
p.(Arg21Gln)
Unknown
-
benign
g.56115030G>A
g.55721246G>A
RDH5(NM_001199771.3):c.62G>A (p.R21Q)
-
RDH5_000205
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/?
2
c.71_74del
r.(?)
p.(Leu24Profs*36)
Both (homozygous)
-
likely pathogenic
g.56115039_56115042del
g.55721255_55721258del
242delTGCC
-
RDH5_000187
Homozygous deletion mutation
PubMed: Pras 2012
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
fundus albipunctatus (retinitis punctata albescens (RPA))
-
PubMed: Pras 2012
?
?
-
-
Jewish-Ashkenazi
-
-
-
-
1
Raheel Qamar
+?/?
2
c.71_74del
r.(?)
p.(Leu24Profs*36)
Both (homozygous)
-
likely pathogenic
g.56115039_56115042del
g.55721255_55721258del
244delTGCC
-
RDH5_000189
Homozygous deletion mutation
PubMed: Pras 2012
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
fundus albipunctatus (retinitis punctata albescens (RPA))
-
PubMed: Pras 2012
?
?
-
Iraq
Jewish-Ashkenazi
-
-
-
-
1
Raheel Qamar
+?/?
2
c.71_74del
r.(?)
p.(Leu24Profs*36)
Both (homozygous)
-
likely pathogenic
g.56115039_56115042del
g.55721255_55721258del
246delTGCC
-
RDH5_000191
Homozygous deletion mutation
PubMed: Pras 2012
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
fundus albipunctatus (retinitis punctata albescens (RPA))
-
PubMed: Pras 2012
?
?
-
-
Jewish-Ashkenazi
-
-
-
-
1
Raheel Qamar
+/.
2
c.71_74del
r.(?)
p.(Leu24Profs*36)
Both (homozygous)
-
pathogenic
g.56115035_56115038del
-
-
-
RDH5_000187
Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message.
Sharon, submitted
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
fundus albipunctatus (retinitis punctata albescens (RPA))
-
Sharon, submitted
-
M
no
Israel
Jewish-Ashkenazi
-
-
-
-
1
Dror Sharon
+/.
-
c.71_74del
r.(?)
p.(Leu24Profs*36)
Unknown
ACMG
pathogenic
g.56115039_56115042del
-
-
-
RDH5_000187
-
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
+?/?
2
c.95del
r.(?)
p.(Phe32Serfs*29)
Parent #1
-
likely pathogenic
g.56115063del
g.55721279del
95delT
-
RDH5_000003
Compound heterozygous mutation
PubMed: Schatz 2010
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
fundus albipunctatus (retinitis punctata albescens (RPA))
-
PubMed: Schatz 2010
?
M
no
Germany
German
-
-
-
-
1
Raheel Qamar
-?/.
-
c.97A>G
r.(?)
p.(Ile33Val)
Unknown
-
likely benign
g.56115065A>G
g.55721281A>G
RDH5(NM_001199771.3):c.97A>G (p.I33V)
-
RDH5_000206
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.97A>G
r.(?)
p.(Ile33Val)
Parent #1
-
VUS
g.56115065A>G
g.55721281A>G
-
-
RDH5_000206
conflicting interpretations of pathogenicity; 4 heterozygous, no homozygous;
Clinindb (India)
PubMed: Narang 2020
,
Journal: Narang 2020
-
rs62638195
Germline
-
4/2795 individuals
-
-
-
DNA
arraySNP
-
Infinium Global Screening Array v1.0
?
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
-
-
-
4
Mohammed Faruq
+?/?
2
c.98T>A
r.(?)
p.(Ile33Asn)
Parent #1
-
likely pathogenic
g.56115066T>A
g.55721282T>A
-
-
RDH5_000005
Compound heterozygous missense mutation
PubMed: Ruther 2004
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
fundus albipunctatus (retinitis punctata albescens (RPA))
-
PubMed: Ruther 2004
3 generation family, 1 affected
F
no
Germany
German
-
-
-
-
1
Raheel Qamar
+?/?
2
c.98T>C
r.(?)
p.(Ile33Thr)
Parent #1
-
likely pathogenic
g.56115066T>C
g.55721282T>C
-
-
RDH5_000007
Compound heterozygous missense mutation
PubMed: Sergouniotis 2011
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
fundus albipunctatus (retinitis punctata albescens (RPA))
-
PubMed: Sergouniotis 2011
?
M
?
-
Europe-C
-
-
-
-
1
Raheel Qamar
+?/?
2
c.103G>A
r.(?)
p.(Gly35Ser)
Both (homozygous)
-
likely pathogenic
g.56115071G>A
g.55721287G>A
nt 103 G to A
-
RDH5_000009
Homozygous missense mutation
PubMed: Nakamura 2000
,
PubMed: Nakamura 2003
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
COD, fundus albipunctatus (retinitis punctata albescens (RPA))
-
PubMed: Nakamura 2000
,
PubMed: Nakamura 2003
Case 12 and Case 13 are brothers
M
?
Japan
Unknown
-
-
-
-
1
Raheel Qamar
+?/?
2
c.103G>A
r.(?)
p.(Gly35Ser)
Both (homozygous)
-
likely pathogenic
g.56115071G>A
g.55721287G>A
nt 103 G to A
-
RDH5_000011
Homozygous missense mutation
PubMed: Nakamura 2000
,
PubMed: Nakamura 2003
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
COD, fundus albipunctatus (retinitis punctata albescens (RPA))
-
PubMed: Nakamura 2000
,
PubMed: Nakamura 2003
Case 12 and Case 13 are brothers
M
?
Japan
Unknown
-
-
-
-
1
Raheel Qamar
+?/?
2
c.103G>A
r.(?)
p.(Gly35Ser)
Both (homozygous)
-
likely pathogenic
g.56115071G>A
g.55721287G>A
-
-
RDH5_000013
Homozygous missense mutation
PubMed: Wada 2001
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
fundus albipunctatus (retinitis punctata albescens (RPA))
-
PubMed: Wada 2001
3 generation family, 1 affected, 3 carriers
M
?
Japan
Unknown
-
-
-
-
1
Raheel Qamar
+?/?
2
c.103G>A
r.(?)
p.(Gly35Ser)
Both (homozygous)
-
likely pathogenic
g.56115071G>A
g.55721287G>A
-
-
RDH5_000015
Homozygous missense mutation
PubMed: Querques 2009
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
COD, fundus albipunctatus (retinitis punctata albescens (RPA))
-
PubMed: Querques 2009
?
F
?
Italy
Unknown
-
-
-
-
1
Raheel Qamar
+?/?
2
c.103G>A
r.(?)
p.(Gly35Ser)
Parent #1
-
likely pathogenic
g.56115071G>A
g.55721287G>A
nt 103 G to A
-
RDH5_000017
Compound heterozygous missense mutation
PubMed: Nakamura 2000
,
PubMed: Nakamura 2003
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
fundus albipunctatus (retinitis punctata albescens (RPA))
-
PubMed: Nakamura 2000
,
PubMed: Nakamura 2003
?
F
?
Japan
Unknown
-
-
-
-
1
Raheel Qamar
+?/?
2
c.103G>A
r.(?)
p.(Gly35Ser)
Parent #1
-
likely pathogenic
g.56115071G>A
g.55721287G>A
nt 103 G to A
-
RDH5_000019
Compound heterozygous missense mutation
PubMed: Niwa 2005
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
fundus albipunctatus (retinitis punctata albescens (RPA))
-
PubMed: Niwa 2005
?
F
?
Japan
Unknown
-
-
-
-
1
Raheel Qamar
+?/?
2
c.103G>A
r.(?)
p.(Gly35Ser)
Parent #1
-
likely pathogenic
g.56115071G>A
g.55721287G>A
nt 103 G to A
-
RDH5_000021
Compound heterozygous missense mutation
PubMed: Niwa 2005
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
fundus albipunctatus (retinitis punctata albescens (RPA))
-
PubMed: Niwa 2005
?
M
?
Japan
Unknown
-
-
-
-
1
Raheel Qamar
+?/.
2
c.103G>A
r.(?)
p.(Gly35Ser)
Unknown
-
likely pathogenic
g.56115071G>A
-
c.211_214dupl, p.A72GfsX15; c.103G>A, p.G35S
-
RDH5_000009
-
PubMed: Littink-2012
-
-
Germline
-
-
-
-
-
DNA
PCR
blood
-
retinal disease
-
PubMed: Littink-2012
-
M
-
Netherlands
-
-
-
-
-
1
LOVD
+?/.
-
c.103G>A
r.(?)
p.(Gly35Ser)
Both (homozygous)
-
likely pathogenic (recessive)
g.56115071G>A
g.55721287G>A
RDH5 G35S
-
RDH5_000009
expresion levels (% wild type): 11; in vivo activity (% wild type): 1.7; in vitro activity: not determined; expected consequences and localisation of mutations: G35 is located in a loop; no nucleotide annotation, extrapolated from protein
PubMed: Liden 2001
-
-
In vitro (cloned)
?
-
-
-
-
DNA
?
-
in vitro assays
retinal disease
?
PubMed: Liden 2001
protein expression and enzymatic activity of naturally occurring RDH5 mutants in COS-1 cells
-
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.103G>A
r.(?)
p.(Gly35Ser)
Parent #1
-
likely pathogenic
g.56115071G>A
g.55721287G>A
RDH5 c.103G>A, p.G35S
-
RDH5_000009
heterozygous
PubMed: Katagiri 2020
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
?
-
-
retinal disease
fam4patII-3
PubMed: Katagiri 2020
-
M
-
Japan
Japanese
-
-
-
-
1
LOVD
+?/.
-
c.103G>A
r.(?)
p.(Gly35Ser)
Parent #2
-
likely pathogenic
g.56115071G>A
g.55721287G>A
RDH5 c.103G>A, p.G35S
-
RDH5_000009
heterozygous
PubMed: Katagiri 2020
-
-
Germline
yes
-
-
-
-
DNA
?
-
-
retinal disease
fam4patII-3
PubMed: Katagiri 2020
-
M
-
Japan
Japanese
-
-
-
-
1
LOVD
+?/?
2
c.124C>T
r.(?)
p.(Arg42Cys)
Parent #1
-
likely pathogenic
g.56115092C>T
g.55721308C>T
124C?T
-
RDH5_000023
Compound heterozygous missense mutation
PubMed: Niwa 2005
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
fundus albipunctatus (retinitis punctata albescens (RPA))
-
PubMed: Niwa 2005
?
F
?
Japan
Unknown
-
-
-
-
1
Raheel Qamar
+?/?
2
c.129del
r.(?)
p.(Leu44Trpfs*17)
Both (homozygous)
-
likely pathogenic
g.56115097del
g.55721313del
Arg42ct[1-bpdel]
-
RDH5_000025
Homozygous frameshift mutation
PubMed: Driessen 2001
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
fundus albipunctatus (retinitis punctata albescens (RPA))
-
PubMed: Driessen 2001
2 generation family, 1 affected
F
?
Netherlands
Unknown
-
-
-
-
1
Raheel Qamar
+?/?
2
c.160C>T
r.(?)
p.(Arg54*)
Both (homozygous)
-
likely pathogenic
g.56115128C>T
g.55721344C>T
343C>T
-
RDH5_000167
Homozygous missense mutation
PubMed: Pras 2012
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
fundus albipunctatus (retinitis punctata albescens (RPA))
-
PubMed: Pras 2012
2 affected (Bukhara)
?
?
Uzbekistan
-
-
-
-
-
1
Raheel Qamar
+?/?
2
c.160C>T
r.(?)
p.(Arg54*)
Both (homozygous)
-
likely pathogenic
g.56115128C>T
g.55721344C>T
343C>T
-
RDH5_000169
Homozygous missense mutation
PubMed: Pras 2012
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
fundus albipunctatus (retinitis punctata albescens (RPA))
-
PubMed: Pras 2012
2 affected (Bukhara)
?
?
Uzbekistan
-
-
-
-
-
1
Raheel Qamar
+?/?
2
c.160C>T
r.(?)
p.(Arg54*)
Both (homozygous)
-
likely pathogenic
g.56115128C>T
g.55721344C>T
343C>T
-
RDH5_000171
Homozygous missense mutation
PubMed: Pras 2012
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
fundus albipunctatus (retinitis punctata albescens (RPA))
-
PubMed: Pras 2012
?
?
-
Iraq;Morocco
Iraqi/Morrocan
-
-
-
-
1
Raheel Qamar
+?/?
2
c.160C>T
r.(?)
p.(Arg54*)
Both (homozygous)
-
likely pathogenic
g.56115128C>T
g.55721344C>T
343C>T
-
RDH5_000173
Homozygous missense mutation
PubMed: Pras 2012
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
fundus albipunctatus (retinitis punctata albescens (RPA))
-
PubMed: Pras 2012
?
?
-
Iran
-
-
-
-
-
1
Raheel Qamar
+?/?
2
c.160C>T
r.(?)
p.(Arg54*)
Both (homozygous)
-
likely pathogenic
g.56115128C>T
g.55721344C>T
343C>T
-
RDH5_000175
Homozygous missense mutation
PubMed: Pras 2012
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
fundus albipunctatus (retinitis punctata albescens (RPA))
-
PubMed: Pras 2012
3 affected
?
-
Iraq
-
-
-
-
-
1
Raheel Qamar
+?/?
2
c.160C>T
r.(?)
p.(Arg54*)
Both (homozygous)
-
likely pathogenic
g.56115128C>T
g.55721344C>T
343C>T
-
RDH5_000177
Homozygous missense mutation
PubMed: Pras 2012
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
fundus albipunctatus (retinitis punctata albescens (RPA))
-
PubMed: Pras 2012
3 affected
?
-
Iraq
-
-
-
-
-
1
Raheel Qamar
+?/?
2
c.160C>T
r.(?)
p.(Arg54*)
Both (homozygous)
-
likely pathogenic
g.56115128C>T
g.55721344C>T
343C>T
-
RDH5_000179
Homozygous missense mutation
PubMed: Pras 2012
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
fundus albipunctatus (retinitis punctata albescens (RPA))
-
PubMed: Pras 2012
3 affected
?
-
Iraq
-
-
-
-
-
1
Raheel Qamar
+?/?
2
c.160C>T
r.(?)
p.(Arg54*)
Both (homozygous)
-
likely pathogenic
g.56115128C>T
g.55721344C>T
343C>T
-
RDH5_000181
Homozygous missense mutation
PubMed: Pras 2012
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
fundus albipunctatus (retinitis punctata albescens (RPA))
-
PubMed: Pras 2012
?
?
-
Iraq
-
-
-
-
-
1
Raheel Qamar
+?/?
2
c.160C>T
r.(?)
p.(Arg54*)
Both (homozygous)
-
likely pathogenic
g.56115128C>T
g.55721344C>T
343C>T
-
RDH5_000183
Homozygous missense mutation
PubMed: Pras 2012
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
fundus albipunctatus (retinitis punctata albescens (RPA))
-
PubMed: Pras 2012
?
?
-
Iran
-
-
-
-
-
1
Raheel Qamar
+?/?
2
c.160C>T
r.(?)
p.(Arg54*)
Both (homozygous)
-
likely pathogenic
g.56115128C>T
g.55721344C>T
343C>T
-
RDH5_000185
Homozygous missense mutation
PubMed: Pras 2012
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
fundus albipunctatus (retinitis punctata albescens (RPA))
-
PubMed: Pras 2012
?
?
-
Iraq
-
-
-
-
-
1
Raheel Qamar
+/.
2
c.160C>T
r.(?)
p.(Arg54*)
Both (homozygous)
-
pathogenic
g.56115128C>T
g.55721344C>T
-
-
RDH5_000167
-
Sharon, submitted
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
fundus albipunctatus (retinitis punctata albescens (RPA))
-
Sharon, submitted
-
M
no
Israel
Jewish-Oriental
-
-
-
-
1
Dror Sharon
+/.
-
c.160C>T
r.(?)
p.(Arg54*)
Unknown
ACMG
pathogenic
g.56115128C>T
-
-
-
RDH5_000167
-
PubMed: Sharon 2019
-
-
Germline
-
1/2420 IRD families
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Sharon 2019
1 IRD family
-
-
Israel
-
-
-
-
-
1
Global Variome, with Curator vacancy
+/.
-
c.160C>T
r.(?)
p.(Arg54*)
Unknown
ACMG
pathogenic
g.56115128C>T
-
-
-
RDH5_000167
-
PubMed: Sharon 2019
-
-
Germline
-
11/2420 IRD families
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Sharon 2019
11 IRD families
-
-
Israel
-
-
-
-
-
11
Global Variome, with Curator vacancy
+/.
-
c.160C>T
r.(?)
p.(Arg54*)
Unknown
ACMG
pathogenic
g.56115128C>T
-
-
-
RDH5_000167
-
PubMed: Sharon 2019
-
-
Germline
-
1/2420 IRD families
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Sharon 2019
1 IRD family
-
-
Israel
-
-
-
-
-
1
Global Variome, with Curator vacancy
+/.
-
c.160C>T
r.(?)
p.(Arg54*)
Unknown
ACMG
pathogenic
g.56115128C>T
-
-
-
RDH5_000167
-
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
+?/?
2
c.175T>A
r.(?)
p.(Cys59Ser)
Paternal (confirmed)
-
likely pathogenic
g.56115143T>A
g.55721359T>A
-
-
RDH5_000165
Compound heterozygous missense mutation
PubMed: Wang 2012
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
fundus albipunctatus (retinitis punctata albescens (RPA))
-
PubMed: Wang 2012
3 generation family, 1 affected, 4 unaffected
F
yes
Taiwan
Unknown
-
-
-
-
1
Raheel Qamar
+?/.
-
c.208C>T
r.(?)
p.(Arg70Trp)
Unknown
ACMG
likely pathogenic
g.56115176C>T
g.55721392C>T
RDH5 c.208C>T, p.(Arg70Trp)
-
RDH5_000219
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
453
PubMed: Jespersgaar 2019
-
?
-
Denmark
-
-
-
-
-
1
LOVD
+?/?
2
c.211_214dup
r.(?)
p.(Ala72Glyfs*15)
Paternal (inferred)
-
likely pathogenic
g.56115179_56115182dup
g.55721395_55721398dup
211_214dupGTGG
-
RDH5_000027
Compound heterozygous frameshift mutation
PubMed: Driessen 2001
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
fundus albipunctatus (retinitis punctata albescens (RPA))
-
PubMed: Driessen 2001
2 generation family, 1 affected
F
?
Netherlands
Unknown
-
-
-
-
1
Raheel Qamar
+?/.
2
c.211_214dup
r.(?)
p.(Ala72Glyfs*15)
Unknown
-
likely pathogenic
g.56115179_56115182dup
-
c.211_214dupl, p.A72GfsX15; c.103G>A, p.G35S
-
RDH5_000027
-
PubMed: Littink-2012
-
-
Germline
-
-
-
-
-
DNA
PCR
blood
-
retinal disease
-
PubMed: Littink-2012
-
M
-
Netherlands
-
-
-
-
-
1
LOVD
+?/?
2
c.218C>T
r.(?)
p.(Ser73Phe)
Paternal (inferred)
-
likely pathogenic
g.56115186C>T
g.55721402C>T
Ser73Phe (TCC?TTC)
-
RDH5_000029
Compound heterozygous missense mutation
PubMed: Yamamoto 1999
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
fundus albipunctatus (retinitis punctata albescens (RPA))
-
PubMed: Yamamoto 1999
2 generation family, 1 affected
M
?
United States
Unknown
-
-
-
-
1
Raheel Qamar
+?/.
-
c.218C>T
r.(?)
p.(Ser73Phe)
Both (homozygous)
-
likely pathogenic (recessive)
g.56115186C>T
g.55721402C>T
RDH5 S73F
-
RDH5_000029
expresion levels (% wild type): <1; in vivo activity (% wild type): 4; in vitro activity: non-active; expected consequences and localisation of mutations: S73 is located at the surface; no nucleotide annotation, extrapolated from protein
PubMed: Liden 2001
-
-
In vitro (cloned)
?
-
-
-
-
DNA
?
-
in vitro assays
retinal disease
?
PubMed: Liden 2001
protein expression and enzymatic activity of naturally occurring RDH5 mutants in COS-1 cells
-
-
-
-
-
-
-
-
1
LOVD
+/.
-
c.243_246del
r.(?)
p.(Asp82Serfs*27)
Unknown
ACMG
pathogenic
g.56115210_56115213del
-
c.242_245del
-
RDH5_000214
-
PubMed: Sharon 2019
-
-
Germline
-
1/2420 IRD families
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Sharon 2019
1 IRD family
-
-
Israel
-
-
-
-
-
1
Global Variome, with Curator vacancy
+?/.
-
c.259C>T
r.(?)
p.(Gln87Ter)
Both (homozygous)
-
likely pathogenic
g.56115227C>T
g.55721443C>T
RDH5 c.259C>T, p.Q87X
-
RDH5_000230
homozygous
PubMed: Katagiri 2020
-
-
Germline
yes
-
-
-
-
DNA
?
-
-
retinal disease
fam10patII-3
PubMed: Katagiri 2020
-
M
yes
Japan
Japanese
-
-
-
-
1
LOVD
?/.
-
c.261G>C
r.(?)
p.(Gln87His)
Unknown
ACMG
VUS
g.56115229G>C
g.55721445G>C
RDH5:NM_002905 c.G261C, p.Q87H
-
RDH5_000221
heterozygous, individual solved, variant non-causal
PubMed: Rodriguez-Munoz 2020
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG-I
blood
-
retinal disease
RPN-309
PubMed: Rodriguez-Munoz 2020
family fRPN-147, proband
F
-
Spain
-
-
-
-
-
1
LOVD
+?/?
2
c.285G>A
r.(?)
p.(Trp95*)
Maternal (confirmed)
-
likely pathogenic
g.56115253G>A
g.55721469G>A
Trp95Ter
-
RDH5_000166
Compound heterozygous nonsense mutation
PubMed: Wang 2012
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
fundus albipunctatus (retinitis punctata albescens (RPA))
-
PubMed: Wang 2012
3 generation family, 1 affected, 4 unaffected
F
yes
Taiwan
Unknown
-
-
-
-
1
Raheel Qamar
+?/?
2i
c.310+1G>A
r.spl?
p.?
Parent #1
-
likely pathogenic
g.56115279G>A
g.55721495G>A
320+1G>A (Splice defect)
-
RDH5_000031
Compound heterozygous missense mutation
PubMed: Sergouniotis 2011
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
fundus albipunctatus (retinitis punctata albescens (RPA))
-
PubMed: Sergouniotis 2011
Asia; South
M
?
-
Unknown
-
-
-
-
1
Raheel Qamar
+?/.
-
c.313C>A
r.(?)
p.(Leu105Ile)
Both (homozygous)
-
likely pathogenic (recessive)
g.56115475C>A
g.55721691C>A
RDH5 L105I
-
RDH5_000225
expresion levels (% wild type): 20; in vivo activity (% wild type): 1; in vitro activity: not determined; expected consequences and localisation of mutations: L105 is located in an internal -sheet; no nucleotide annotation, extrapolated from protein
PubMed: Liden 2001
-
-
In vitro (cloned)
?
-
-
-
-
DNA
?
-
in vitro assays
retinal disease
?
PubMed: Liden 2001
protein expression and enzymatic activity of naturally occurring RDH5 mutants in COS-1 cells
-
-
-
-
-
-
-
-
1
LOVD
+?/?
3
c.319G>C
r.(?)
p.(Gly107Arg)
Both (homozygous)
-
likely pathogenic
g.56115481G>C
g.55721697G>C
G to C mutation at nt 319
-
RDH5_000033
Homozygous missense mutation
PubMed: Hotta 2003
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
macular dystrophy, fundus albipunctatus (retinitis punctata albescens (RPA))
-
PubMed: Hotta 2003
2 affected
M
yes
Japan
Unknown
-
-
-
-
1
Raheel Qamar
+?/?
3
c.319G>C
r.(?)
p.(Gly107Arg)
Both (homozygous)
-
likely pathogenic
g.56115481G>C
g.55721697G>C
G to C mutation at nt 319
-
RDH5_000035
Homozygous missense mutation
PubMed: Hotta 2003
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
macular dystrophy, fundus albipunctatus (retinitis punctata albescens (RPA))
-
PubMed: Hotta 2003
2 affected
F
yes
Japan
Unknown
-
-
-
-
1
Raheel Qamar
+?/?
3
c.319G>C
r.(?)
p.(Gly107Arg)
Both (homozygous)
-
likely pathogenic
g.56115481G>C
g.55721697G>C
G to C mutation at nt 319
-
RDH5_000037
Homozygous missense mutation
PubMed: Sato 2004
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
retinal disease
-
PubMed: Sato 2004
?
?
?
Japan
Unknown
-
-
-
-
1
Raheel Qamar
+?/?
3
c.319G>C
r.(?)
p.(Gly107Arg)
Parent #1
-
likely pathogenic
g.56115481G>C
g.55721697G>C
nt 319 G to C
-
RDH5_000039
Compound heterozygous missense mutation
PubMed: Nakamura 2000
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
fundus albipunctatus (retinitis punctata albescens (RPA))
-
PubMed: Nakamura 2000
?
M
?
Japan
Unknown
-
-
-
-
1
Raheel Qamar
+?/.
-
c.319G>C
r.(?)
p.(Gly107Arg)
Parent #1
-
likely pathogenic
g.56115481G>C
g.55721697G>C
RDH5 c.319G>C, p.G107R
-
RDH5_000033
heterozygous
PubMed: Katagiri 2020
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
?
-
-
retinal disease
fam11patII-3
PubMed: Katagiri 2020
-
F
-
Japan
Japanese
-
-
-
-
1
LOVD
+?/.
-
c.319G>C
r.(?)
p.(Gly107Arg)
Parent #2
-
likely pathogenic
g.56115481G>C
g.55721697G>C
RDH5 c.319G>C, p.G107R
-
RDH5_000033
heterozygous
PubMed: Katagiri 2020
-
-
Germline
yes
-
-
-
-
DNA
?
-
-
retinal disease
fam11patII-3
PubMed: Katagiri 2020
-
F
-
Japan
Japanese
-
-
-
-
1
LOVD
+?/?
3
c.346G>C
r.(?)
p.(Gly116Arg)
Parent #1
-
likely pathogenic
g.56115508G>C
g.55721724G>C
-
-
RDH5_000043
Compound heterozygous missense mutation
PubMed: Sergouniotis 2011
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
fundus albipunctatus (retinitis punctata albescens (RPA))
-
PubMed: Sergouniotis 2011
?
M
?
-
Europe-C
-
-
-
-
1
Raheel Qamar
+?/?
3
c.347_348insCAG
r.(?)
p.(Gly116_Ile117insSer)
Both (homozygous)
-
likely pathogenic
g.56115509_56115510insCAG
g.55721725_55721726insCAG
346_347insGCA
-
RDH5_000041
Homozygous inframe Mutation
PubMed: Sergouniotis 2011
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
fundus albipunctatus (retinitis punctata albescens (RPA))
-
PubMed: Sergouniotis 2011
Asia; South
F
?
-
Unknown
-
-
-
-
1
Raheel Qamar
-?/.
-
c.366A>G
r.(?)
p.(Pro122=)
Unknown
-
likely benign
g.56115528A>G
g.55721744A>G
RDH5(NM_001199771.1):c.366A>G (p.P122=)
-
RDH5_000207
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/?
3
c.382G>A
r.(?)
p.(Asp128Asn)
Both (homozygous)
-
likely pathogenic
g.56115544G>A
g.55721760G>A
-
-
RDH5_000045
Homozygous missense mutation
PubMed: Schatz 2010
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
fundus albipunctatus (retinitis punctata albescens (RPA))
-
PubMed: Schatz 2010
Middle Eastern
F
?
-
Unknown
-
-
-
-
1
Raheel Qamar
+?/?
3
c.382G>A
r.(?)
p.(Asp128Asn)
Parent #1
-
likely pathogenic
g.56115544G>A
g.55721760G>A
GAT to AAT at codon 128
-
RDH5_000047
Compound heterozygous missense mutation
PubMed: Iannaccone 2007
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
fundus albipunctatus (retinitis punctata albescens (RPA))
-
PubMed: Iannaccone 2007
(Hispanic-American)
F
yes
-
(Arabic Muslim)
-
-
-
-
1
Raheel Qamar
+?/?
3
c.382G>A
r.(?)
p.(Asp128Asn)
Both (homozygous)
-
likely pathogenic
g.56115544G>A
g.55721760G>A
-
-
RDH5_000193
Homozygous missense mutation
PubMed: Pras 2012
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
fundus albipunctatus (retinitis punctata albescens (RPA))
-
PubMed: Pras 2012
?
?
-
-
Arab-Muslim
-
-
-
-
1
Raheel Qamar
+?/?
3
c.382G>A
r.(?)
p.(Asp128Asn)
Both (homozygous)
-
likely pathogenic
g.56115544G>A
g.55721760G>A
-
-
RDH5_000195
Homozygous missense mutation
PubMed: Pras 2012
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
fundus albipunctatus (retinitis punctata albescens (RPA))
-
PubMed: Pras 2012
?
?
-
-
Arab-Muslim
-
-
-
-
1
Raheel Qamar
+?/?
3
c.382G>A
r.(?)
p.(Asp128Asn)
Both (homozygous)
-
likely pathogenic
g.56115544G>A
g.55721760G>A
-
-
RDH5_000197
Homozygous missense mutation
PubMed: Pras 2012
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
fundus albipunctatus (retinitis punctata albescens (RPA))
-
PubMed: Pras 2012
?
?
-
-
Arab-Muslim
-
-
-
-
1
Raheel Qamar
+?/.
3
c.382G>A
r.(?)
p.(Asp128Asn)
Both (homozygous)
-
likely pathogenic
g.56115544G>A
g.55721760G>A
-
-
RDH5_000045
-
Sharon, submitted
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
fundus albipunctatus (retinitis punctata albescens (RPA))
-
Sharon, submitted
-
M
yes
Israel
Arab-Muslim
-
-
-
-
4
Dror Sharon
+?/.
3
c.382G>A
r.(?)
p.(Asp128Asn)
Unknown
-
likely pathogenic
g.56115544G>A
g.55721760G>A
-
-
RDH5_000045
-
Sharon, submitted
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
fundus albipunctatus (retinitis punctata albescens (RPA))
-
Sharon, submitted
-
M
no
Israel
Morocco;Jewish
-
-
-
-
1
Dror Sharon
+/.
-
c.382G>A
r.(?)
p.(Asp128Asn)
Unknown
ACMG
pathogenic
g.56115544G>A
-
-
-
RDH5_000045
-
PubMed: Sharon 2019
-
-
Germline
-
4/2420 IRD families
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Sharon 2019
4 IRD families
-
-
Israel
-
-
-
-
-
4
Global Variome, with Curator vacancy
+?/.
-
c.382G>A
r.(?)
p.(Asp128Asn)
Both (homozygous)
-
likely pathogenic (recessive)
g.56115544G>A
g.55721760G>A
RDH5 D128N
-
RDH5_000045
expresion levels (% wild type): <1; in vivo activity (% wild type): <1; in vitro activity: not determined; expected consequences and localisation of mutations: D128 is located in a surface-exposed alpha-helix; no nucleotide annotation, extrapolated from protein
PubMed: Liden 2001
-
-
In vitro (cloned)
?
-
-
-
-
DNA
?
-
in vitro assays
retinal disease
?
PubMed: Liden 2001
protein expression and enzymatic activity of naturally occurring RDH5 mutants in COS-1 cells
-
-
-
-
-
-
-
-
1
LOVD
+?/.
3
c.382G>A
r.(?)
p.(Asp128Asn)
Both (homozygous)
ACMG
likely pathogenic
g.56115544G>A
g.55721760G>A
-
-
RDH5_000045
-
PubMed: Hitti-Malin 2024
,
Journal: Hitti-Malin 2024
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
smMIP-based 105 iMD/AMD genes
macular dystrophy
074640
PubMed: Hitti-Malin 2024
,
Journal: Hitti-Malin 2024
-
F
-
-
-
-
-
-
-
1
Rebekkah Hitti-Malin
+?/?
3
c.394G>A
r.(?)
p.(Val132Met)
Parent #1
-
likely pathogenic
g.56115556G>A
g.55721772G>A
nt 394 G to A
-
RDH5_000049
Compound heterozygous missense mutation
PubMed: Nakamura 2000
,
PubMed: Nakamura 2003
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
fundus albipunctatus (retinitis punctata albescens (RPA))
-
PubMed: Nakamura 2000
,
PubMed: Nakamura 2003
?
F
?
Japan
Unknown
-
-
-
-
4
Raheel Qamar
+?/?
3
c.394G>A
r.(?)
p.(Val132Met)
Maternal (confirmed)
-
likely pathogenic
g.56115556G>A
g.55721772G>A
G to A at nucleotide 394
-
RDH5_000051
Compound heterozygous missense mutation
PubMed: Nakamura 2004
,
PubMed: Niwa 2005
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
COD, fundus albipunctatus (retinitis punctata albescens (RPA))
-
PubMed: Nakamura 2004
,
PubMed: Niwa 2005
4 generation family, 2 affected
F
yes
Japan
Unknown
-
-
-
-
4
Raheel Qamar
+?/?
3
c.394G>A
r.(?)
p.(Val132Met)
Maternal (confirmed)
-
likely pathogenic
g.56115556G>A
g.55721772G>A
G to A at nucleotide 394
-
RDH5_000053
Compound heterozygous missense mutation
PubMed: Nakamura 2004
,
PubMed: Niwa 2005
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
COD, fundus albipunctatus (retinitis punctata albescens (RPA))
-
PubMed: Nakamura 2004
,
PubMed: Niwa 2005
4 generation family, 2 affected
F
yes
Japan
Unknown
-
-
-
-
4
Raheel Qamar
+/.
3
c.412del
r.(?)
p.(Met138Trpfs*21)
Both (homozygous)
-
pathogenic (recessive)
g.56115574del
g.55721790del
-
-
RDH5_000212
-
PubMed: Sharon 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
fundus albipunctatus (retinitis punctata albescens (RPA))
MOL0901
PubMed: Sharon 2019
-
F
yes
Israel
Arab-Muslim
-
-
-
-
1
Dror Sharon
+/.
-
c.412del
r.(?)
p.(Met138Trpfs*21)
Both (homozygous)
ACMG
pathogenic (recessive)
g.56115574del
-
412delA
-
RDH5_000212
-
PubMed: Beryozkin 2015
,
PubMed: Sharon 2019
-
-
Germline
-
1/2420 IRD families
-
-
-
DNA
SEQ
-
-
retinal disease
MOL1025
PubMed: Beryozkin 2015
,
PubMed: Sharon 2019
family
-
-
Israel
Arab-Muslim
-
-
-
-
1
Global Variome, with Curator vacancy
+?/?
3
c.416G>T
r.(?)
p.(Gly139Val)
Parent #1
-
likely pathogenic
g.56115578G>T
g.55721794G>T
417G>T
-
RDH5_000055
Compound heterozygous missense mutation
PubMed: Sergouniotis 2011
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
fundus albipunctatus (retinitis punctata albescens (RPA))
-
PubMed: Sergouniotis 2011
Middle Eastern
M
?
-
Unknown
-
-
-
-
1
Raheel Qamar
-/.
3
c.423C>A
r.(=)
p.(=)
Both (homozygous)
-
benign
g.56115585C>A
-
(Ile141Ile, ATC?ATA, 423C?A)
-
RDH5_000220
-
PubMed: Fishman-2004
-
-
Germline
-
-
-
-
-
DNA
SSCA, SEQ
blood
-
retinal disease
-
PubMed: Fishman-2004
-
F
yes
-
palestinian
-
-
-
-
1
LOVD
-/.
-
c.423C>T
r.(?)
p.(Ile141=)
Unknown
-
benign
g.56115585C>T
g.55721801C>T
-
-
RDH5_000211
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.464G>A
r.(?)
p.(Arg155Gln)
Unknown
-
VUS
g.56115626G>A
g.55721842G>A
RDH5(NM_001199771.1):c.464G>A (p.R155Q)
-
RDH5_000208
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/?
3
c.469C>T
r.(?)
p.(Arg157Trp)
Parent #2
-
likely pathogenic
g.56115631C>T
g.55721847C>T
-
-
RDH5_000006
Compound heterozygous missense mutation
PubMed: Ruther 2004
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
fundus albipunctatus (retinitis punctata albescens (RPA))
-
PubMed: Ruther 2004
3 generation family, 1 affected
F
no
Germany
German
-
-
-
-
1
Raheel Qamar
+/.
3
c.469C>T
r.(?)
p.(Arg157Trp)
Both (homozygous)
-
pathogenic (recessive)
g.56115631C>T
g.55721847C>T
-
-
RDH5_000006
-
PubMed: Birtel 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
-
retinal disease
Pat118
PubMed: Birtel 2018
family
F
-
Germany
-
-
-
-
-
1
LOVD
+?/.
3
c.469C>T
r.(?)
p.(Arg157Trp)
Both (homozygous)
-
likely pathogenic
g.56115631C>T
g.55721847C>T
RDH5 c.469C>T, p.Arg157Trp
-
RDH5_000006
homozygous
PubMed: Gliem 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG-I
blood
whole exome sequencing
retinal disease
167
PubMed: Gliem 2020
-
F
-
(Germany)
-
-
-
-
-
1
LOVD
+?/.
3
c.469C>T
r.(?)
p.(Arg157Trp)
Both (homozygous)
-
likely pathogenic
g.56115631C>T
g.55721847C>T
RDH5 c.469C>T, p.Arg157Trp
-
RDH5_000006
homozygous
PubMed: Gliem 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG-I
blood
whole exome sequencing
retinal disease
168
PubMed: Gliem 2020
-
F
-
(Germany)
-
-
-
-
-
1
LOVD
+?/.
-
c.469C>T
r.(?)
p.(Arg157Trp)
Both (homozygous)
-
likely pathogenic (recessive)
g.56115631C>T
g.55721847C>T
RDH5 Arg157Trp
-
RDH5_000006
no nucleotide annotation, extrapolated from protein and databases; homozygous
PubMed: Cideciyan 2000
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
II:2
PubMed: Cideciyan 2000
-
M
-
United States
-
-
-
-
-
1
LOVD
+?/.
-
c.469C>T
r.(?)
p.(Arg157Trp)
Both (homozygous)
-
likely pathogenic (recessive)
g.56115631C>T
g.55721847C>T
RDH5 R157W
-
RDH5_000006
expresion levels (% wild type): 5; in vivo activity (% wild type): <1; in vitro activity: not determined; expected consequences and localisation of mutations: R157 forms H-bondse to L272 and A274. W157 cannot form these H-bonds; no nucleotide annotation, extrapolated from protein
PubMed: Liden 2001
-
-
In vitro (cloned)
?
-
-
-
-
DNA
?
-
in vitro assays
retinal disease
?
PubMed: Liden 2001
protein expression and enzymatic activity of naturally occurring RDH5 mutants in COS-1 cells
-
-
-
-
-
-
-
-
1
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