Global Variome shared LOVD
RDH5 (retinol dehydrogenase 5 (11-cis/9-cis))
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Curator:
Markus Preising
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Unique variants in the RDH5 gene
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.
Reported
: The number of times this variant has been reported in the database.
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
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%)
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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How to query
Effect
Reported
Exon
DNA change (cDNA)
RNA change
Protein
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
Owner
-/., -?/.
2
-
c.-8440G>A
r.(?)
p.(=)
-
benign, 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, ITGA7_010023
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Leiden
,
VKGL-NL_Utrecht
-?/.
1
-
c.-8402A>C
r.(?)
p.(=)
-
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
-
-
-
-
-
VKGL-NL_Leiden
+?/.
8
-
c.-33+2dup
r.(?)
p.?
-
likely pathogenic
g.56114303dup
g.55720519dup
RDH5 c.-33 + 2dup
-
RDH5_000229
homozygous
PubMed: Khan 2020
-
-
Germline
yes
-
-
-
-
LOVD
+?/.
1
-
c.?
r.(?)
p.?
-
likely pathogenic (recessive)
g.?
g.?
RDH5 V212(4bp del)
-
ALX1_000001
1 more item
PubMed: Liden 2001
-
-
In vitro (cloned)
?
-
-
-
-
LOVD
-?/.
1
-
c.31C>T
r.(?)
p.(Leu11Phe)
-
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
-
-
-
-
-
VKGL-NL_Rotterdam
?/.
1
-
c.53T>C
r.(?)
p.(Leu18Pro)
-
VUS
g.56115021T>C
-
RDH5(NM_001199771.1):c.53T>C (p.L18P)
-
BLOC1S1_000017
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+?/?
1
2
c.55A>G
r.(?)
p.(Arg19Gly)
-
likely pathogenic
g.56115023A>G
g.55721239A>G
-
-
RDH5_000001
Homozugous missense mutation
PubMed: Sergouniotis 2011
-
-
Germline
-
-
-
-
-
Raheel Qamar
-/.
1
-
c.62G>A
r.(?)
p.(Arg21Gln)
-
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
-
-
-
-
-
VKGL-NL_AMC
+/., +?/?
5
2
c.71_74del
r.(?)
p.(Leu24Profs*36)
ACMG
likely pathogenic, pathogenic
g.56115035_56115038del, g.56115039_56115042del
g.55721255_55721258del
242delTGCC, 244delTGCC, 246delTGCC
-
RDH5_000187, RDH5_000189, RDH5_000191
Homozygous deletion mutation,
1 more item
Sharon, submitted,
PubMed: Pras 2012
,
PubMed: Sharon 2019
-
-
Germline
-
1/2420 IRD families
-
-
-
Global Variome, with Curator vacancy
,
Raheel Qamar
,
Dror Sharon
+?/?
1
2
c.95del
r.(?)
p.(Phe32Serfs*29)
-
likely pathogenic
g.56115063del
g.55721279del
95delT
-
RDH5_000003
Compound heterozygous mutation
PubMed: Schatz 2010
-
-
Germline
-
-
-
-
-
Raheel Qamar
-?/., ?/.
2
-
c.97A>G
r.(?)
p.(Ile33Val)
-
likely benign, VUS
g.56115065A>G
g.55721281A>G
RDH5(NM_001199771.3):c.97A>G (p.I33V)
-
RDH5_000206
conflicting interpretations of pathogenicity; 4 heterozygous, no homozygous;
Clinindb (India)
,
1 more item
PubMed: Narang 2020
,
Journal: Narang 2020
-
rs62638195
CLASSIFICATION record, Germline
-
4/2795 individuals
-
-
-
VKGL-NL_AMC
,
Mohammed Faruq
+?/?
1
2
c.98T>A
r.(?)
p.(Ile33Asn)
-
likely pathogenic
g.56115066T>A
g.55721282T>A
-
-
RDH5_000005
Compound heterozygous missense mutation
PubMed: Ruther 2004
-
-
Germline
-
-
-
-
-
Raheel Qamar
+?/?
1
2
c.98T>C
r.(?)
p.(Ile33Thr)
-
likely pathogenic
g.56115066T>C
g.55721282T>C
-
-
RDH5_000007
Compound heterozygous missense mutation
PubMed: Sergouniotis 2011
-
-
Germline
-
-
-
-
-
Raheel Qamar
+?/., +?/?
11
2
c.103G>A
r.(?)
p.(Gly35Ser)
-
likely pathogenic, likely pathogenic (recessive)
g.56115071G>A
g.55721287G>A
c.211_214dupl, p.A72GfsX15; c.103G>A, p.G35S, nt 103 G to A, RDH5 c.103G>A, p.G35S, RDH5 G35S
-
RDH5_000009, RDH5_000011, RDH5_000013, RDH5_000015, RDH5_000017, RDH5_000019, RDH5_000021
Compound heterozygous missense mutation, heterozygous, Homozygous missense mutation,
1 more item
PubMed: Katagiri 2020
,
PubMed: Liden 2001
,
PubMed: Littink-2012
,
PubMed: Niwa 2005
,
PubMed: Wada 2001
,
2 more items
-
-
Germline, Germline/De novo (untested), In vitro (cloned)
?, yes
-
-
-
-
Raheel Qamar
+?/?
1
2
c.124C>T
r.(?)
p.(Arg42Cys)
-
likely pathogenic
g.56115092C>T
g.55721308C>T
124C?T
-
RDH5_000023
Compound heterozygous missense mutation
PubMed: Niwa 2005
-
-
Germline
-
-
-
-
-
Raheel Qamar
+?/?
1
2
c.129del
r.(?)
p.(Leu44Trpfs*17)
-
likely pathogenic
g.56115097del
g.55721313del
Arg42ct[1-bpdel]
-
RDH5_000025
Homozygous frameshift mutation
PubMed: Driessen 2001
-
-
Germline
-
-
-
-
-
Raheel Qamar
+/., +?/?
15
2
c.160C>T
r.(?)
p.(Arg54*)
ACMG
likely pathogenic, pathogenic
g.56115128C>T
g.55721344C>T
343C>T
-
RDH5_000167, RDH5_000169, RDH5_000171, RDH5_000173, RDH5_000175, RDH5_000177, RDH5_000179, RDH5_000181,
2 more items
Homozygous missense mutation
Sharon, submitted,
PubMed: Pras 2012
,
PubMed: Sharon 2019
-
-
Germline
-
1/2420 IRD families, 11/2420 IRD families
-
-
-
Global Variome, with Curator vacancy
,
Raheel Qamar
,
Dror Sharon
+?/?
1
2
c.175T>A
r.(?)
p.(Cys59Ser)
-
likely pathogenic
g.56115143T>A
g.55721359T>A
-
-
RDH5_000165
Compound heterozygous missense mutation
PubMed: Wang 2012
-
-
Germline
-
-
-
-
-
Raheel Qamar
+?/.
1
-
c.208C>T
r.(?)
p.(Arg70Trp)
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
?
-
-
-
-
LOVD
+?/., +?/?
2
2
c.211_214dup
r.(?)
p.(Ala72Glyfs*15)
-
likely pathogenic
g.56115179_56115182dup
g.55721395_55721398dup
211_214dupGTGG, c.211_214dupl, p.A72GfsX15; c.103G>A, p.G35S
-
RDH5_000027
Compound heterozygous frameshift mutation
PubMed: Driessen 2001
,
PubMed: Littink-2012
-
-
Germline
-
-
-
-
-
Raheel Qamar
+?/., +?/?
2
2
c.218C>T
r.(?)
p.(Ser73Phe)
-
likely pathogenic, likely pathogenic (recessive)
g.56115186C>T
g.55721402C>T
RDH5 S73F, Ser73Phe (TCC?TTC)
-
RDH5_000029
Compound heterozygous missense mutation,
1 more item
PubMed: Liden 2001
,
PubMed: Yamamoto 1999
-
-
Germline, In vitro (cloned)
?
-
-
-
-
Raheel Qamar
+/.
1
-
c.243_246del
r.(?)
p.(Asp82Serfs*27)
ACMG
pathogenic
g.56115210_56115213del
-
c.242_245del
-
RDH5_000214
-
PubMed: Sharon 2019
-
-
Germline
-
1/2420 IRD families
-
-
-
Global Variome, with Curator vacancy
+?/.
1
-
c.259C>T
r.(?)
p.(Gln87Ter)
-
likely pathogenic
g.56115227C>T
g.55721443C>T
RDH5 c.259C>T, p.Q87X
-
RDH5_000230
homozygous
PubMed: Katagiri 2020
-
-
Germline
yes
-
-
-
-
LOVD
?/.
1
-
c.261G>C
r.(?)
p.(Gln87His)
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
?
-
-
-
-
LOVD
+?/?
1
2
c.285G>A
r.(?)
p.(Trp95*)
-
likely pathogenic
g.56115253G>A
g.55721469G>A
Trp95Ter
-
RDH5_000166
Compound heterozygous nonsense mutation
PubMed: Wang 2012
-
-
Germline
-
-
-
-
-
Raheel Qamar
+?/?
1
2i
c.310+1G>A
r.spl?
p.?
-
likely pathogenic
g.56115279G>A
g.55721495G>A
320+1G>A (Splice defect)
-
RDH5_000031
Compound heterozygous missense mutation
PubMed: Sergouniotis 2011
-
-
Germline
-
-
-
-
-
Raheel Qamar
+?/.
1
-
c.313C>A
r.(?)
p.(Leu105Ile)
-
likely pathogenic (recessive)
g.56115475C>A
g.55721691C>A
RDH5 L105I
-
RDH5_000225
1 more item
PubMed: Liden 2001
-
-
In vitro (cloned)
?
-
-
-
-
LOVD
+?/., +?/?
6
3
c.319G>C
r.(?)
p.(Gly107Arg)
-
likely pathogenic
g.56115481G>C
g.55721697G>C
G to C mutation at nt 319, nt 319 G to C, RDH5 c.319G>C, p.G107R
-
RDH5_000033, RDH5_000035, RDH5_000037, RDH5_000039
Compound heterozygous missense mutation, heterozygous, Homozygous missense mutation
PubMed: Hotta 2003
,
PubMed: Katagiri 2020
,
PubMed: Nakamura 2000
,
PubMed: Sato 2004
-
-
Germline, Germline/De novo (untested)
?, yes
-
-
-
-
Raheel Qamar
+?/?
1
3
c.346G>C
r.(?)
p.(Gly116Arg)
-
likely pathogenic
g.56115508G>C
g.55721724G>C
-
-
RDH5_000043
Compound heterozygous missense mutation
PubMed: Sergouniotis 2011
-
-
Germline
-
-
-
-
-
Raheel Qamar
+?/?
1
3
c.347_348insCAG
r.(?)
p.(Gly116_Ile117insSer)
-
likely pathogenic
g.56115509_56115510insCAG
g.55721725_55721726insCAG
346_347insGCA
-
RDH5_000041
Homozygous inframe Mutation
PubMed: Sergouniotis 2011
-
-
Germline
-
-
-
-
-
Raheel Qamar
-?/.
1
-
c.366A>G
r.(?)
p.(Pro122=)
-
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
-
-
-
-
-
VKGL-NL_Rotterdam
+/., +?/., +?/?
10
3
c.382G>A
r.(?)
p.(Asp128Asn)
ACMG
likely pathogenic, likely pathogenic (recessive), pathogenic
g.56115544G>A
g.55721760G>A
GAT to AAT at codon 128, RDH5 D128N
-
RDH5_000045, RDH5_000047, RDH5_000193, RDH5_000195, RDH5_000197
Compound heterozygous missense mutation, Homozygous missense mutation,
1 more item
Sharon, submitted,
PubMed: Hitti-Malin 2024
,
Journal: Hitti-Malin 2024
,
PubMed: Iannaccone 2007
,
4 more items
-
-
Germline, In vitro (cloned)
?
4/2420 IRD families
-
-
-
Global Variome, with Curator vacancy
,
Raheel Qamar
,
Dror Sharon
,
Rebekkah Hitti-Malin
+?/?
3
3
c.394G>A
r.(?)
p.(Val132Met)
-
likely pathogenic
g.56115556G>A
g.55721772G>A
G to A at nucleotide 394, nt 394 G to A
-
RDH5_000049, RDH5_000051, RDH5_000053
Compound heterozygous missense mutation
PubMed: Nakamura 2000
,
PubMed: Nakamura 2003
,
PubMed: Nakamura 2004
,
PubMed: Niwa 2005
-
-
Germline
-
-
-
-
-
Raheel Qamar
+/.
2
3
c.412del
r.(?)
p.(Met138Trpfs*21)
ACMG
pathogenic (recessive)
g.56115574del
g.55721790del
412delA
-
RDH5_000212
-
PubMed: Beryozkin 2015
,
PubMed: Sharon 2019
,
PubMed: Sharon 2019
-
-
Germline
-
1/2420 IRD families
-
-
-
Global Variome, with Curator vacancy
,
Dror Sharon
+?/?
1
3
c.416G>T
r.(?)
p.(Gly139Val)
-
likely pathogenic
g.56115578G>T
g.55721794G>T
417G>T
-
RDH5_000055
Compound heterozygous missense mutation
PubMed: Sergouniotis 2011
-
-
Germline
-
-
-
-
-
Raheel Qamar
-/.
1
3
c.423C>A
r.(=)
p.(=)
-
benign
g.56115585C>A
-
(Ile141Ile, ATC?ATA, 423C?A)
-
RDH5_000220
-
PubMed: Fishman-2004
-
-
Germline
-
-
-
-
-
LOVD
-/.
1
-
c.423C>T
r.(?)
p.(Ile141=)
-
benign
g.56115585C>T
g.55721801C>T
-
-
RDH5_000211
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
?/.
1
-
c.464G>A
r.(?)
p.(Arg155Gln)
-
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
-
-
-
-
-
VKGL-NL_Rotterdam
+/., +?/., +?/?
6
3
c.469C>T
r.(?)
p.(Arg157Trp)
-
likely pathogenic, likely pathogenic (recessive), pathogenic (recessive)
g.56115631C>T
g.55721847C>T
RDH5 Arg157Trp, RDH5 c.469C>T, p.Arg157Trp, RDH5 R157W
-
RDH5_000006
Compound heterozygous missense mutation, homozygous,
2 more items
PubMed: Birtel 2018
,
PubMed: Cideciyan 2000
,
PubMed: Gliem 2020
,
PubMed: Liden 2001
,
1 more item
-
-
Germline, In vitro (cloned), Unknown
?, yes
-
-
-
-
Raheel Qamar
+/., +?/?
3
3
c.470G>A
r.(?)
p.(Arg157Gln)
ACMG
likely pathogenic, pathogenic
g.56115632G>A
g.55721848G>A
-
-
RDH5_000057, RDH5_000059
Compound heterozygous missense mutation, Homozygous missense mutation,
1 more item
PubMed: Hajali 2009
,
PubMed: Hitti-Malin 2024
,
Journal: Hitti-Malin 2024
,
PubMed: Sergouniotis 2011
-
-
Germline
-
-
-
-
-
Johan den Dunnen
,
Raheel Qamar
+?/?
1
3
c.490G>T
r.(?)
p.(Val164Phe)
-
likely pathogenic
g.56115652G>T
g.55721868G>T
G490T
-
RDH5_000061
Homozygous missense mutation
PubMed: Yamamoto 2003
-
-
Germline
-
-
-
-
-
Raheel Qamar
+?/.
10
-
c.500G>A
r.(?)
p.(Arg167His)
-
likely pathogenic, likely pathogenic (recessive)
g.56115662G>A
g.55721878G>A
RDH5 Arg167His (CAC to CGC), RDH5 c.500G>A p.(Arg167His), RDH5 c.500G>A p.Arg167His,
2 more items
-
RDH5_000226
heterozygous, no nucleotide annotation, extrapolated from protein and databases; heterozygous
PubMed: Katagiri 2020
,
PubMed: Liu 2015
,
PubMed: Sekiya 2003
,
PubMed: Yang 2017
-
-
Germline
yes
-
-
-
-
LOVD
+?/.
1
-
c.524A>T
r.(?)
p.(Tyr175Phe)
-
likely pathogenic (recessive)
g.56115686A>T
-
RDH5 c.524A>T (p.Tyr175Phe)
-
RDH5_000224
homozygous
PubMed: Skorczyk-Werner 2015
-
-
Germline
yes
-
-
-
-
LOVD
-/., -?/.
2
-
c.525C>T
r.(?)
p.(Tyr175=)
-
benign, likely benign
g.56115687C>T
g.55721903C>T
RDH5(NM_001199771.1):c.525C>T (p.Y175=), RDH5(NM_001199771.3):c.525C>T (p.Y175=)
-
BLOC1S1_000013
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
,
VKGL-NL_AMC
+?/?
2
3
c.530T>G
r.(?)
p.(Val177Gly)
-
likely pathogenic
g.56115692T>G
g.55721908T>G
530T>G, GTC?GGC
-
RDH5_000063, RDH5_000065
Compound heterozygous missense mutation
PubMed: Hayashi 2006
,
PubMed: Kuroiwa 2000
-
-
Germline
-
-
-
-
-
Raheel Qamar
+/., +?/., ?/.
4
3
c.536A>G
r.(?)
p.(Lys179Arg)
-
likely pathogenic, pathogenic, VUS
g.56115698A>G
g.55721914A>G
c.536A>G
-
RDH5_000203
-
PubMed: Ellingford 2016
,
PubMed: Li 2017
,
PubMed: Maranhao 2014
-
-
Germline
yes
0/95 unrelated Pakistani controls
-
-
-
James Hejtmancik
?/.
1
-
c.545T>C
r.(?)
p.(Leu182Pro)
-
VUS
g.56115707T>C
-
RDH5(NM_002905.5):c.545T>C (p.L182P)
-
BLOC1S1_000031
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
+/.
2
3
c.547G>T
r.(?)
p.(Glu183*)
ACMG
pathogenic
g.56115709G>T
g.55721925G>T
-
-
RDH5_000213
-
Sharon, submitted,
PubMed: Sharon 2019
-
-
Germline
-
1/2420 IRD families
-
-
-
Global Variome, with Curator vacancy
,
Dror Sharon
-/.
1
-
c.570-18G>A
r.(=)
p.(=)
-
benign
g.56117652G>A
g.55723868G>A
RDH5(NM_001199771.3):c.570-18G>A
-
BLOC1S1_000014
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
-/.
1
-
c.570-8G>C
r.(=)
p.(=)
-
benign
g.56117662G>C
-
RDH5(NM_002905.5):c.570-8G>C
-
BLOC1S1_000022
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
+/., +?/., +?/?, ?/.
6
4
c.572G>A
r.(?)
p.(Arg191Gln)
ACMG
likely pathogenic, pathogenic, VUS
g.56117672G>A
g.55723888G>A
755G>A, RDH5 Ex.4 c.712G>T p.(Gly238Trp), Ex.4 c.572G>A p.(Arg191Gln),
2 more items
-
RDH5_000199
compound heterozygous, heterozygous, individual solved, variant non-causal, solved, homozygous,
1 more item
PubMed: Martin Merida 2019
,
PubMed: Pras 2012
,
PubMed: Rodriguez-Munoz 2020
,
PubMed: Sharon 2019
,
1 more item
-
-
Germline, Unknown
?, yes
1/2420 IRD families
-
-
-
Global Variome, with Curator vacancy
,
Raheel Qamar
-?/.
1
-
c.600C>A
r.(?)
p.(Val200=)
-
likely benign
g.56117700C>A
g.55723916C>A
RDH5(NM_001199771.1):c.600C>A (p.V200=)
-
RDH5_000209
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/., +?/.
3
4
c.602C>T
r.(?)
p.(Ser201Phe)
-
likely pathogenic (recessive), pathogenic
g.56117702C>T
g.55723918C>T
c.602C>T, RDH5 c.602C > T (p.Ser201P
-
RDH5_000218
homozygous
PubMed: Eisenberger-2013
,
PubMed: Sultan 2018
-
-
Germline
yes
0/200 ethnically-matched control samples
-
-
-
LOVD
+/., +?/., +?/?
4
4
c.625C>T
r.(?)
p.(Arg209*), p.(Arg209Ter)
ACMG
likely pathogenic, pathogenic
g.56117725C>T
g.55723941C>T
c.625C>T(p.Arg209*), RDH5:NM_002905 c.C625T, p.R209X
-
RDH5_000067
Homozygous missense mutation, homozygous, individual solved, variant causal
PubMed: Chen-2013
,
PubMed: Martin-Merida 2018
,
PubMed: Rodriguez-Munoz 2020
,
PubMed: Schatz 2010
-
-
Germline
?, yes
1/258
-
-
-
Raheel Qamar
+?/?
1
4
c.689_690delinsGG
r.(?)
p.(Pro230Arg)
-
likely pathogenic
g.56117789_56117790delinsGG
g.55724005_55724006delinsGG
689_ 690CT>GG
-
RDH5_000069
Compound heterozygous missense mutation / Technique: restriction endonuclease analysis
PubMed: Wang 2008
-
-
Germline
-
-
MnlI-
-
-
Raheel Qamar
+?/?
1
4
c.710A>C
r.(?)
p.(Tyr237Ser)
-
likely pathogenic
g.56117810A>C
g.55724026A>C
-
-
RDH5_000044
Compound heterozygous missense mutation
PubMed: Sergouniotis 2011
-
-
Germline
-
-
-
-
-
Raheel Qamar
+?/.
1
4
c.710A>G
r.(?)
p.(Tyr237Cys)
-
likely pathogenic (recessive)
g.56117810A>G
-
c.710A>G
-
RDH5_000223
-
PubMed: Liu-2020
-
-
Germline
-
-
-
-
-
LOVD
+/., +?/., +?/?
17
4
c.712G>T
r.(?)
p.(Gly238Trp)
ACMG
likely pathogenic, likely pathogenic (recessive), pathogenic
g.56117812G>T
g.55724028G>T
GGG?TGG, GGGÂ to TGG at codon 238, Gly238Trp (GGG?TGG), RDH5 c.712G>T, RDH5 G238W,
3 more items
-
RDH5_000004, RDH5_000008, RDH5_000030, RDH5_000032, RDH5_000048, RDH5_000060, RDH5_000071, RDH5_000073,
3 more items
compound heterozygous, Compound heterozygous missense mutation, Homozygous missense mutation,
5 more items
PubMed: Gonzalez-Fernandez 1999
,
PubMed: Hajali 2009
,
PubMed: Iannaccone 2007
,
PubMed: Liden 2001
,
7 more items
-
-
CLASSIFICATION record, Germline, In vitro (cloned), Unknown
?, yes
4/2420 IRD families
-
-
-
Global Variome, with Curator vacancy
,
Raheel Qamar
,
VKGL-NL_Rotterdam
+?/.
1
4
c.713G>C
r.(?)
p.(Gly238Ala)
ACMG
likely pathogenic (recessive)
g.56117813G>C
g.55724029G>C
g.3663G>C
-
RDH5_000231
not found in 200 control chromosome
-
-
-
Germline
yes
-
-
-
-
Srilekha Sundar
+?/.
1
-
c.718del
r.(?)
p.(Ala240Profs*7)
-
likely pathogenic (recessive)
g.56117818del
g.55724034del
RDH5 c.718delG (p.A240Pfs*7)
-
RDH5_000227
homozygous
PubMed: Makiyama 2014
-
-
Germline
yes
-
-
-
-
LOVD
+/., +?/., +?/?
4
4
c.718dup
r.(?)
p.(Ala240Glyfs*19)
ACMG
likely pathogenic, likely pathogenic (recessive), pathogenic
g.56117818dup
g.55724034dup
719 G insertion, RDH5 c.719ins G (p.Ala240Glyfs17)
-
RDH5_000081, RDH5_000083
error in annotation: this variant is actually c.718dup; heterozygous, Homozygous frameshift mutation
PubMed: Nakamura 2000
,
PubMed: Niwa 2005
,
PubMed: Sharon 2019
,
PubMed: Yang 2017
-
-
Germline
yes
1/2420 IRD families
-
-
-
Global Variome, with Curator vacancy
,
Raheel Qamar
-?/.
1
-
c.752G>A
r.(?)
p.(Arg251His)
-
likely benign
g.56118124G>A
g.55724340G>A
RDH5(NM_001199771.1):c.752G>A (p.R251H)
-
RDH5_000210
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/., +?/., +?/?
12
5
c.758T>G
r.(?)
p.(Met253Arg)
-
likely pathogenic, likely pathogenic (recessive), pathogenic
g.56118130T>G
g.55724346T>G
RDH5 c.758T>G (p.Met253Arg)
-
RDH5_000085, RDH5_000087, RDH5_000089, RDH5_000091, RDH5_000093
homozygous, Homozygous missense mutation
PubMed: Ajmal 2012
,
PubMed: Ajmal 2012
,
PubMed: Li 2017
-
-
Germline
yes
-
-
-
-
Raheel Qamar
,
James Hejtmancik
+?/.
1
5
c.776C>T
r.(?)
p.(Pro259Leu)
-
likely pathogenic
g.56118148C>T
g.55724364C>T
-
-
RDH5_000217
-
PubMed: Martin-Merida 2018
-
-
Germline
?
1/258
-
-
-
LOVD
+?/., +?/?
4
5
c.791T>G
r.(?)
p.(Val264Gly)
-
likely pathogenic, likely pathogenic (recessive)
g.56118163T>G
g.55724379T>G
GTG?GGG, RDH5 V264G
-
RDH5_000095, RDH5_000097, RDH5_000099
Homozygous missense mutation,
1 more item
PubMed: Hirose 2000
,
PubMed: Liden 2001
-
-
Germline, In vitro (cloned)
?
-
-
-
-
Raheel Qamar
?/.
1
-
c.797G>A
r.(?)
p.(Arg266Gln)
ACMG
VUS
g.56118169G>A
g.55724385G>A
-
-
RDH5_000215
ACMG PM2, PP4, BP4
PubMed: Zenteno 2020
-
-
Germline
-
1/143 cases
-
-
-
Johan den Dunnen
+?/?
1
5
c.801C>G
r.(?)
p.(Cys267Trp)
-
likely pathogenic
g.56118173C>G
g.55724389C>G
-
-
RDH5_000028
Compound heterozygous missense mutation
PubMed: Driessen 2001
-
-
Germline
-
-
-
-
-
Raheel Qamar
+?/?
1
5
c.824_825del
r.(?)
p.(Arg275Profs*60)
-
likely pathogenic
g.56118196_56118197del
g.55724412_55724413del
824_825delGA
-
RDH5_000101
Homozygous frameshift mutation
PubMed: Sergouniotis 2011
-
-
Germline
-
-
-
-
-
Raheel Qamar
+?/.
1
-
c.832C>T
r.(?)
p.(Arg278*)
-
likely pathogenic (recessive)
g.56118204C>T
g.55724420C>T
RDH5 c.832C>T p.Arg278Ter
-
RDH5_000228
heterozygous
PubMed: Liu 2015
-
-
Germline
yes
-
-
-
-
LOVD
+?/?
1
5
c.833G>A
r.(?)
p.(Arg278Gln)
-
likely pathogenic
g.56118205G>A
g.55724421G>A
1016G>A
-
RDH5_000201
Homozygous missense mutation
PubMed: Pras 2012
-
-
Germline
-
-
-
-
-
Raheel Qamar
+/., +/?, +?/., +?/?
18
5
c.839G>A
r.(?)
p.(Arg280His)
ACMG
likely pathogenic, likely pathogenic (recessive), pathogenic, pathogenic (recessive), VUS
g.56118211G>A
g.55724427G>A
839 G?A, c.839G>A, CGC?CAC, G to A at nucleotide 539, nt 839 G to A, RDH5 R280H,
2 more items
-
RDH5_000001, RDH5_000202
Compound heterozygous missense mutation, heterozygous, individual solved, variant non-causal,
3 more items
PubMed: Consugar 2015
,
PubMed: Gonzalez-Fernandez 1999
,
PubMed: Kuroiwa 2000
,
PubMed: Liden 2001
,
8 more items
-
-
Germline, Germline/De novo (untested), In vitro (cloned), Unknown
?
1/143 cases
-
-
-
Johan den Dunnen
,
Feng Wang
,
Raheel Qamar
+?/?
3
5
c.841T>C
r.(?)
p.(Tyr281His)
-
likely pathogenic
g.56118213T>C
g.55724429T>C
841T?C, T to C at nt 841
-
RDH5_000082, RDH5_000084, RDH5_000115
Compound heterozygous missense mutation, Homozygous missense mutation
PubMed: Nakamura 2000
,
PubMed: Nakamura 2002
,
PubMed: Niwa 2005
-
-
Germline, Unknown
-
-
-
-
-
Raheel Qamar
?/.
1
-
c.848C>G
r.(?)
p.(Pro283Arg)
ACMG
VUS
g.56118220C>G
g.55724436C>G
-
-
RDH5_000216
ACMG PM2, PP3, PP4
PubMed: Zenteno 2020
-
-
Germline
-
1/143 cases
-
-
-
Johan den Dunnen
+/?, +?/., +?/?
5
5
c.880G>C
r.(?)
p.(Ala294Pro)
ACMG
likely pathogenic, likely pathogenic (recessive), pathogenic
g.56118252G>C
g.55724468G>C
881G>C, GCC?CCC, RDH5 A294P
-
RDH5_000104, RDH5_000106, RDH5_000119
Compound heterozygous missense mutation, Homozygous missense mutation,
1 more item
PubMed: Gonzalez-Fernandez 1999
,
PubMed: Liden 2001
,
PubMed: Schatz 2010
,
PubMed: Sharon 2019
-
-
Germline, In vitro (cloned)
?
1/2420 IRD families
-
-
-
Global Variome, with Curator vacancy
,
Raheel Qamar
+?/.
1
-
c.890T>C
r.(?)
p.(Leu297Pro)
-
likely pathogenic
g.56118262T>C
g.55724478T>C
RDH5 c.890T>C, p.Leu297Pro
-
RDH5_000222
heterozygous
PubMed: Liu 2020
-
rs745993927
Germline/De novo (untested)
?
1/64
-
-
-
LOVD
+?/?
2
5
c.913_917del
r.(?)
p.(Val305Hisfs*29)
-
likely pathogenic
g.56118285_56118289del
g.55724501_55724505del
913_917del GTGCT
-
RDH5_000121, RDH5_000123
5 bp deletion segregating in the family
PubMed: Ajmal 2012
-
-
Germline
-
-
-
-
-
Raheel Qamar
+?/.
2
-
c.913_917delGTGCT
r.(?)
p.(Val305Hisfs*29)
-
likely pathogenic (recessive)
g.56118285_56118289del
g.55724501_55724505del
RDH5 c.913_917delGTGCT (p.Val305Hisfs*29)
-
RDH5_000121
homozygous
PubMed: Ajmal 2012
-
-
Germline
yes
-
-
-
-
LOVD
+?/., +?/?
73
5
c.928delinsGAAG
r.(?)
p.(Leu310delinsGluVal)
-
likely pathogenic, likely pathogenic (recessive)
g.56118300delinsGAAG
g.55724516delinsGAAG
1085delC/insGAAG, 928 C to GAAG, 928 C?GAAG, 928C?GAAG, 928delCinsGAAG, c.928delCinsGAAG, RDH5 L310EV,
7 more items
-
RDH5_000018, RDH5_000020, RDH5_000022, RDH5_000024, RDH5_000040, RDH5_000066, RDH5_000070, RDH5_000108,
25 more items
Compound heterozygous deletion/insertion mutation, Compound heterozygous missense mutation, homozygous,
5 more items
PubMed: Hayashi 2006
,
PubMed: Hirose 2000
,
PubMed: Huang 2018
,
PubMed: Katagiri 2020
,
PubMed: Liu 2015
,
13 more items
-
-
Germline, Germline/De novo (untested), In vitro (cloned), Unknown
?, yes
-
MnlI-
-
-
Johan den Dunnen
,
Raheel Qamar
?/.
1
-
c.950T>C
r.(?)
p.(Val317Ala)
-
VUS
g.56118322T>C
-
RDH5(NM_001199771.1):c.950T>C (p.V317A)
-
BLOC1S1_000023
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+?/?
1
5
c.955T>C
r.(?)
p.(*319Argext*32)
-
likely pathogenic
g.56118327T>C
g.55724543T>C
956T>C
-
RDH5_000056
Compound heterozygous non-stop mutation
PubMed: Sergouniotis 2011
-
-
Germline
-
-
-
-
-
Raheel Qamar
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