Global Variome shared LOVD
PEX6 (peroxisomal biogenesis factor 6)
LOVD v.3.0 Build 25c [
Current LOVD status
]
Register as submitter
|
Log in
Curators:
Nancy Braverman
and
Steven Steinberg
View all genes
View PEX6 gene homepage
View graphs about the PEX6 gene database
View all transcripts
View all transcripts of gene PEX6
View all variants
View all variants affecting transcripts
View unique variants in gene PEX6
View all variants in gene PEX6
Full data view for gene PEX6
View all individuals
View all individuals with variants in gene PEX6
View all diseases
View all diseases associated with gene PEX6
View all screenings
View all screenings for gene PEX6
Submit new data
Unique variants in the PEX6 gene
This database is one of the dbPEX gene variant databases.
PEX1 (peroxisome biogenesis factor 1)
PEX2 (peroxisome biogenesis factor 2)
PEX3 (peroxisome biogenesis factor 3)
PEX5 (peroxisome biogenesis factor 5)
PEX6 (peroxisome biogenesis factor 6)
PEX7 (peroxisome biogenesis factor 7)
PEX10 (peroxisome biogenesis factor 10)
PEX12 (peroxisome biogenesis factor 12)
PEX13 (peroxisome biogenesis factor 13)
PEX14 (peroxisome biogenesis factor 14)
PEX16 (peroxisome biogenesis factor 16)
PEX19 (peroxisome biogenesis factor 19)
PEX26 (peroxisome biogenesis factor 26)
The variants shown are described using the NM_000287.3 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
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, sex-linked and imprinting by maternal/paternal. A '!' warns for exceptional circumstances to be explained in the 'Remarks' field (low penetrance, variants pathogenic in heterozygous state only, hypomorphic/hypermorphic variants, protective variants, etc.). Non-disease consequences (e.g. drug metabolism (pharmacogenetics), risk factor, blood group, tasting bitter) are indicated using additions to the benign classification; benign (dominant), benign (recessive), benign (!), etc. The value 'association' is used for variants associated with a phenotype and 'NA' for variants from in vitro/in silico records. NOTE: classification may differ from the opinion of the curator as given in a variant SUMMARY-record or the 'Functional effect concluded'). NOTE: pathogenic/likely pathogenic should go together with "variant (probably) affects function" In ClassFunctional.
All options:
pathogenic
pathogenic (dominant)
pathogenic (recessive)
pathogenic (!)
pathogenic (maternal)
pathogenic (paternal)
likely pathogenic
likely pathogenic (dominant)
likely pathogenic (recessive)
likely pathogenic (!)
likely pathogenic (maternal)
likely pathogenic (paternal)
VUS
VUS (!)
likely benign
likely benign (dominant)
likely benign (recessive)
likely benign (!)
likely benign (maternal)
likely benign (paternal)
benign
benign (dominant)
benign (recessive)
benign (!)
benign (maternal)
benign (paternal)
association
unclassified
NA
DNA change (genomic) (hg19)
: HGVS description of variant at DNA level, based on the genomic (chromosomal) DNA reference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
DNA change (hg38)
: HGVS description of variant at DNA level, based on the hg38 genomic (chromosomal) eference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
Published as
: listed only when different from "DNA change"; variant as reported originally (e.g. 521delT). Variants seen in animal models, tested in vitro, predicted from RNA analysis, etc. are described between brackets like c.(456C>G)
ISCN
: description of the variant according to ISCN nomenclature
DB-ID
: database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro
Variant remarks
: remarks regarding variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.
Reference
: publication describing the variant submitted, incl. links to OMIM, PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
ClinVar ID
: ID of variant in ClinVar database
dbSNP ID
: the dbSNP ID
Origin
: Origin of variant/record: Germline = in all cells, De novo = in all cells, but not in either parent, Germline/De novo (untested) = in all cells, parents not tested (use only when De novo is likely, e.g. isolated/sporadic cases with dominant disease), Somatic = present in a subset of cells, but not in either parent, Uniparental disomy = from parental disomy (maternal or paternal), CLASSIFICATION record = submitter only sharing variant classification (note another report may share Individual data), SUMMARY record = master summary record from curator (may link to another database), In vitro (cloned) = data resulting from in vitro functional assays, animal model = data from animal model, Artefact = false positive variant call, DUPLICATE record = variant already described on another chromosome (e.g. unbalanced translocation, duplicating transposition, 2nd fusion transcript, etc.)
All options:
Germline
De novo
Germline/De novo (untested)
Somatic
Uniparental disomy
Uniparental disomy, maternal allele
Uniparental disomy, paternal allele
CLASSIFICATION record
SUMMARY record
In vitro (cloned)
In silico
animal model
Artefact
DUPLICATE record
Unknown
Not applicable
Segregation
: Indicates whether the variant segregates with the phenotype (yes), does not segregate with the phenotype (no) or segregation is unknown (?)
All options:
? = unknown
yes = segregates with phenotype
no = does not segregate with phenotype
- = not applicable
Frequency
: frequency in which the variant was found; e.g 5/760 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested)
Re-site
: restriction enzyme recognition site created (+) or destroyed (-); e.g. BglII+, BamHI-
VIP
: variant VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Methylation
: result of methylation test; GOM (gain of methylation), LOM (loss of methylation), 30% (30% methylated). NOTE: when several tests were done mention the method as well (e.g. MS-PCR 75%)
How to query this table
All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.
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'
To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.
151 entries on 2 pages. Showing entries 1 - 100.
10 per page
25 per page
50 per page
100 per page
250 per page
500 per page
1000 per page
Legend
How to query
« First
Prev
1
2
Next
Last »
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
+/.
1
3
c.1047-2 A>G
r.(?)
p.?
-
pathogenic (recessive)
g.?
-
-
-
PEX6_000074
-
PubMed: Ebberink 2010
-
-
Germline
-
-
-
-
-
Nancy Braverman
-/.
1
1
c.-55C>T
r.(?)
p.(=)
-
benign
g.42946943G>A
-
-
-
PEX6_000042
-
-
-
-
Germline
-
0.54
-
-
-
Nancy Braverman
-/.
1
_1
-
-
-
-
benign
g.42947192T>C
-
304A>G
-
PEX6_000043
-
-
-
-
Germline
-
-
-
-
-
Nancy Braverman
+/.
3
1
c.10_69del
r.(?)
p.(Ala4_Leu23del)
-
pathogenic (recessive)
g.42946820_42946879del
-
[10_69del;126_217del]
-
PEX6_000004
no variant 2nd chromosome reported
{DBSubmBaltimore, USA 2006},
PubMed: Ebberink 2010
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
,
Nancy Braverman
-?/.
1
-
c.25C>T
r.(?)
p.(Leu9=)
-
likely benign
g.42946864G>A
g.42979126G>A
PEX6(NM_000287.3):c.25C>T (p.L9=)
-
GNMT_000007
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/.
1
-
c.35T>C
r.(?)
p.(Phe12Ser)
-
pathogenic (recessive)
g.42946854A>G
-
-
-
PEX6_000054
-
PubMed: Steinberg 2004
-
-
Germline
-
-
-
-
-
Nancy Braverman
+/+, +/.
2
1
c.115_120del
r.(?)
p.(Ala39_Leu40del)
-
pathogenic, pathogenic (recessive)
g.42946769_42946774del, g.42946772_42946777del
g.42979034_42979039del
114_119delTGGCCCT
-
PEX6_000061, PEX6_000230
no variant 2nd chromosome reported
MORL Deafness Variation Database
,
PubMed: Ebberink 2010
,
PubMed: Ebberink 2010
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
,
Nancy Braverman
+/.
3
1
c.126_217del
r.(?)
p.(Gly44Thrfs*3)
-
pathogenic (recessive)
g.42946672_42946763del
-
[10_69del;126_217del]
-
PEX6_000113
no variant 2nd chromosome reported
PubMed: Ebberink 2010
-
-
Germline
-
-
-
-
-
Johan den Dunnen
,
Nancy Braverman
+/.
1
1
c.170T>C
r.170u>c
p.Leu57Pro
-
pathogenic (recessive)
g.42946719A>G
g.42978981A>G
-
-
PEX6_000020
-
PubMed: Imamura 2000
,
MORL Deafness Variation Database
-
-
Germline
-
-
-
-
-
Nancy Braverman
-/.
1
-
c.210G>A
r.(?)
p.(Gly70=)
-
benign
g.42946679C>T
g.42978941C>T
-
-
PEX6_000235
-
PubMed: Yik 2009
-
-
Germline
-
1/116 chromosomes
-
-
-
Johan den Dunnen
+/.
1
1
c.224dup
r.(?)
p.(Val76Glyfs*2)
-
pathogenic (recessive)
g.42946665dup
-
224dupT
-
PEX6_000062
-
PubMed: Ebberink 2010
,
MORL Deafness Variation Database
-
-
Germline
-
-
-
-
-
Nancy Braverman
-/.
2
1
c.235G>C
r.(?)
p.(Ala79Pro)
-
benign
g.42946654C>G
g.42978916C>G
-
-
GNMT_000006, PEX6_000035
-
PubMed: Steinberg 2004
,
PubMed: Yik 2009
-
-
Germline
-
0.02, 0.026
-
-
-
Johan den Dunnen
,
Nancy Braverman
+/.
1
1
c.275_280del
r.275_280del
p.Val92_Arg93del
-
pathogenic (recessive)
g.42946612_42946617del
g.42978874_42978879del
-
-
PEX6_000021
-
PubMed: Zhang 1999
,
MORL Deafness Variation Database
-
-
Germline
-
-
-
-
-
Nancy Braverman
+/.
1
1
c.277C>G
r.(?)
p.(Arg93Gly)
-
pathogenic (recessive)
g.42946612G>C
-
-
-
PEX6_000063
no variant 2nd chromosome reported
PubMed: Ebberink 2010
-
-
Germline
-
-
-
-
-
Nancy Braverman
+/.
1
1
c.281C>A
r.(?)
p.(Ala94Glu)
-
pathogenic (recessive)
g.42946608G>T
-
-
-
PEX6_000052
-
PubMed: Steinberg 2004
-
-
Germline
-
-
-
-
-
Nancy Braverman
+/.
2
1
c.283_288del
r.283_288del
p.Arg95_Ala96del
-
pathogenic (recessive)
g.42946601_42946606del
-
282_287del
-
PEX6_000017
-
-
-
-
Germline
-
-
-
-
-
Nancy Braverman
?/.
1
-
c.302C>G
r.(?)
p.(Pro101Arg)
-
VUS
g.42946587G>C
g.42978849G>C
PEX6(NM_000287.3):c.302C>G (p.P101R)
-
GNMT_000010
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Groningen
?/.
1
-
c.302C>T
r.(?)
p.(Pro101Leu)
-
VUS
g.42946587G>A
g.42978849G>A
PEX6(NM_000287.3):c.302C>T (p.P101L)
-
GNMT_000009
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/.
3
1
c.311del
r.(?)
p.(Gly104Valfs*22)
-
pathogenic, pathogenic (recessive)
g.42946578del
-
311delG
-
PEX6_000051, PEX6_000224
no variant 2nd chromosome reported
MORL Deafness Variation Database
,
PubMed: Ebberink 2010
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
,
Nancy Braverman
-/.
1
-
c.330C>G
r.(=)
p.(=)
-
benign
g.42946559G>C
-
-
-
PEX6_000234
-
PubMed: Konkolova 2015
-
-
Germline
-
-
-
-
-
Johan den Dunnen
-/.
4
-
c.399G>T
r.(=), r.(?)
p.(=), p.(Val133=)
-
benign
g.42946490C>A
g.42978752C>A
PEX6(NM_000287.3):c.399G>T (p.V133=)
-
PEX6_000146
VKGL data sharing initiative Nederland
PubMed: Konkolova 2015
,
PubMed: Steinberg 2004
,
PubMed: Yik 2009
-
-
CLASSIFICATION record, Germline
-
0.256, 0.37
-
-
-
Johan den Dunnen
,
Nancy Braverman
,
VKGL-NL_Groningen
+/.
1
1
c.402del
r.402del
p.Gly135Aspfs*23
-
pathogenic (recessive)
g.42946487del
g.42978751del
402delC
-
PEX6_000023
-
PubMed: Zhang 1999
,
MORL Deafness Variation Database
-
-
Germline
-
-
-
-
-
Nancy Braverman
-?/.
1
-
c.407C>A
r.(?)
p.(Pro136Gln)
-
likely benign
g.42946482G>T
g.42978744G>T
PEX6(NM_000287.3):c.407C>A (p.P136Q)
-
PEX6_000145
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+?/+?
1
1
c.488G>C
r.(?)
p.(Arg163Pro)
-
likely pathogenic
g.42946401C>G
g.42978663C>G
-
-
PEX6_000222
-
MORL Deafness Variation Database
,
PubMed: Grunert 2014
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
+/.
1
-
c.500_501del
r.(?)
p.(Cys167Serfs*74)
-
pathogenic (recessive)
g.42946388_42946389del
-
499_500delTG
-
PEX6_000014
-
-
-
-
Germline
-
-
-
-
-
Nancy Braverman
+/.
1
1
c.510dup
r.510dup
p.Gly171Trpfs*71
-
pathogenic (recessive)
g.42946379dup
g.42978641dup
511insT
-
PEX6_000007
-
PubMed: Fukuda 1996
,
MORL Deafness Variation Database
-
-
Germline
-
-
-
-
-
Nancy Braverman
+/.
1
1
c.517del
r.(?)
p.(Ser173Alafs*33)
-
pathogenic (recessive)
g.42946372del
-
517delA
-
PEX6_000008
-
PubMed: Steinberg 2004
-
-
Germline
-
-
-
-
-
Nancy Braverman
+/.
1
-
c.530del
r.(?)
p.(Pro177Hisfs*29)
-
pathogenic (recessive)
g.42946359del
-
530delC
-
PEX6_000022
-
PubMed: Zhang 1999
,
MORL Deafness Variation Database
-
-
Germline
-
-
-
-
-
Nancy Braverman
-?/.
2
-
c.531A>C
r.(?)
p.(Pro177=)
-
likely benign
g.42946358T>G
g.42978620T>G
PEX6(NM_000287.3):c.531A>C (p.P177=)
-
PEX6_000144
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
,
VKGL-NL_Groningen
+/.
1
1
c.557C>A
r.(?)
p.(Ala186Glu)
-
pathogenic (recessive)
g.42946332G>T
-
-
-
PEX6_000064
no variant 2nd chromosome reported
PubMed: Ebberink 2010
-
-
Germline
-
-
-
-
-
Nancy Braverman
+/+
1
1
c.611C>G
r.(?)
p.(Ser204*)
-
pathogenic
g.42946278G>C
g.42978540G>C
-
-
PEX6_000217
-
MORL Deafness Variation Database
,
PubMed: Al-Gazali 2010
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
+/.
1
1
c.656A>C
r.(?)
p.(Gln219Pro)
-
pathogenic (recessive)
g.42946233T>G
-
-
-
PEX6_000068
-
PubMed: Ebberink 2010
,
MORL Deafness Variation Database
-
-
Germline
-
-
-
-
-
Nancy Braverman
+/.
1
1
c.656del
r.(?)
p.(Gln219Argfs*27)
-
pathogenic (recessive)
g.42946233del
-
656delA
-
PEX6_000065
no variant 2nd chromosome reported
PubMed: Ebberink 2010
,
MORL Deafness Variation Database
-
-
Germline
-
-
-
-
-
Nancy Braverman
+/.
1
1
c.659G>T
r.(?)
p.(Gly220Val)
-
pathogenic (recessive)
g.42946230C>A
-
-
-
PEX6_000066
no variant 2nd chromosome reported
PubMed: Ebberink 2010
,
MORL Deafness Variation Database
-
-
Germline
-
-
-
-
-
Nancy Braverman
+?/+?, +?/.
2
1
c.661G>T
r.(?)
p.(Glu221*), p.(Glu221Ter)
-
likely pathogenic
g.42946228C>A
g.42978490C>A
-
-
PEX6_000213
10 heterozygous, no homozygous;
Clinindb (India)
MORL Deafness Variation Database
,
PubMed: Richards 2015
,
PubMed: Narang 2020
,
Journal: Narang 2020
-
rs786205580
Germline
-
10/2795 individuals
-
-
-
Global Variome, with Curator vacancy
,
Mohammed Faruq
?/.
1
-
c.685A>G
r.(?)
p.(Arg229Gly)
-
VUS
g.42946204T>C
g.42978466T>C
PEX6(NM_000287.3):c.685A>G (p.R229G)
-
GNMT_000005
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
+/.
1
1
c.689_690del
r.(?)
p.(Glu230Valfs*11)
-
pathogenic (recessive)
g.42946199_42946200del
-
689_670delAG
-
PEX6_000069
-
PubMed: Ebberink 2010
,
MORL Deafness Variation Database
-
-
Germline
-
-
-
-
-
Nancy Braverman
+/+, +/.
3
1
c.689_690dup
r.(?)
p.(Ser232Hisfs*15)
-
pathogenic, pathogenic (recessive)
g.42946199_42946200dup, g.42946203_42946204dup
g.42978465_42978466dup
685_686insAG
-
PEX6_000046, PEX6_000212
-
MORL Deafness Variation Database
,
PubMed: Ebberink 2010
,
PubMed: Krause 2006
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
,
Nancy Braverman
+/+
1
1
c.689_690insAG
r.(?)
p.(Ser231Glyfs*16)
-
pathogenic
g.42946199_42946200insCT
g.42978461_42978462insCT
-
-
PEX6_000210
-
MORL Deafness Variation Database
,
PubMed: Bean 2013
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
+/+
1
1
c.691_692insAG
r.(?)
p.(Ser231*)
-
pathogenic
g.42946197_42946198insCT
g.42978459_42978460insCT
-
-
PEX6_000209
-
MORL Deafness Variation Database
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
+/.
1
1
c.727C>T
r.727c>u
p.Gln243*
-
pathogenic (recessive)
g.42946162G>A
g.42978424G>A
-
-
PEX6_000028
no variant 2nd chromosome
PubMed: Zhang 1999
,
MORL Deafness Variation Database
-
-
Germline
-
-
-
-
-
Nancy Braverman
?/.
1
-
c.740C>G
r.(?)
p.(Pro247Arg)
-
VUS
g.42946149G>C
-
PEX6(NM_000287.3):c.740C>G (p.P247R)
-
GNMT_000011
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/+, +/.
5
1
c.802_815del
r.(?), r.619_882del, r.802_815del
p.(Asp268Cysfs*8), p.Asp268Cysfs*8, p.Val76_Gln294del
-
pathogenic, pathogenic (recessive)
g.42946074_42946087del, g.42946078_42946091del
g.42978340_42978353del
800-813del
-
PEX6_000002, PEX6_000207
-
MORL Deafness Variation Database
,
PubMed: Matsumoto 2001
,
PubMed: Levesque 2012
,
1 more item
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
,
Nancy Braverman
-/.
3
-
c.813G>T
r.(=), r.(?)
p.(=), p.(Ala271=)
-
benign
g.42946076C>A
g.42978338C>A
PEX6(NM_000287.3):c.813G>T (p.A271=)
-
PEX6_000143
VKGL data sharing initiative Nederland
PubMed: Steinberg 2004
,
PubMed: Yik 2009
-
-
CLASSIFICATION record, Germline
-
0.013, 1/116 chromosomes
-
-
-
Johan den Dunnen
,
VKGL-NL_Rotterdam
+/.
2
1
c.814_817dup
r.(?), r.814_817dup
p.(Val273AlafsTer9), p.Val273Alafs*9
-
pathogenic, pathogenic (recessive)
g.42946073_42946076dup
g.42978335_42978338dup
814insCTTG
-
GNMT_000008, PEX6_000024
VKGL data sharing initiative Nederland
PubMed: Zhang 1999
,
MORL Deafness Variation Database
-
-
CLASSIFICATION record, Germline
-
-
-
-
-
Nancy Braverman
,
VKGL-NL_Nijmegen
+/.
6
1, 5
c.821C>T
r.(?)
p.(Pro274Leu), p.Pro274Leu
-
NA, pathogenic, pathogenic (recessive)
g.42946068G>A
g.42978330G>A
-
-
PEX6_000055
cDNA expression cloning in PEX6 defective fibroblasts showed reduced complementation (0.05)
PubMed: Ratbi 2015
,
Journal: Ratbi 2015
,
PubMed: Steinberg 2004
,
PubMed: Yik 2009
-
-
Germline, In vitro (cloned)
yes
-
-
-
-
Johan den Dunnen
,
Jamie Zeegers
,
Nancy Braverman
+/., -?/., ?/.
3
-
c.853C>G
r.(?)
p.(Pro285Ala)
-
likely benign, pathogenic (recessive), VUS
g.42946036G>C
g.42978298G>C
PEX6(NM_000287.3):c.853C>G (p.P285A), PEX6_000010
-
PEX6_000142
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record, Germline
-
-
-
-
-
VKGL-NL_Rotterdam
,
Nancy Braverman
,
VKGL-NL_Groningen
+/.
1
1
c.856del
r.(?)
p.(Leu286Trpfs*65)
-
pathogenic (recessive)
g.42946033del
-
856delC
-
PEX6_000071
-
PubMed: Ebberink 2010
,
MORL Deafness Variation Database
-
-
Germline
-
-
-
-
-
Nancy Braverman
+/.
1
1
c.867del
r.(?)
p.(Glu290Serfs*61)
-
pathogenic (recessive)
g.42946022del
-
867delA
-
PEX6_000067
-
PubMed: Ebberink 2010
,
MORL Deafness Variation Database
-
-
Germline
-
-
-
-
-
Nancy Braverman
+/.
2
1i
c.882+1G>A
r.spl
p.?
-
pathogenic (recessive)
g.42946006C>T
g.42978268C>T
541_542insT, IVS1+1G>A
-
PEX6_000056
-
PubMed: Steinberg 2004
,
PubMed: Yik 2009
-
-
Germline
-
-
-
-
-
Johan den Dunnen
-/.
2
1i
c.883-3T>C
r.(?), r.spl?
p.(-), p.?
-
benign
g.42942779A>G
g.42975041A>G
PEX6(NM_000287.3):c.883-3T>C
-
PEX6_000044, PEX6_000141
VKGL data sharing initiative Nederland
PubMed: Ebberink 2010
-
-
CLASSIFICATION record, Germline
-
0.08
-
-
-
Nancy Braverman
,
VKGL-NL_Groningen
+/.
1
1i
c.883-2A>G
r.[883_1046del,883_884del]
p.?
-
pathogenic (recessive)
g.42942778T>C
g.42975040T>C
IVS1-2A>G
-
PEX6_000029
-
PubMed: Zhang 1999
,
MORL Deafness Variation Database
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
+/.
1
1i_3i
c.(882+1_883-1)_(1130+1_1131-1)del
r.(?)
p.?
-
pathogenic (recessive)
g.(42937726_42941740)_(42942777_42946006)del
-
883_1130del
-
PEX6_000072
-
PubMed: Ebberink 2010
-
-
Germline
-
-
-
-
-
Nancy Braverman
-?/.
1
-
c.903C>T
r.(?)
p.(Ile301=)
-
likely benign
g.42942756G>A
g.42975018G>A
PEX6(NM_000287.3):c.903C>T (p.I301=)
-
PEX6_000140
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/.
2
2
c.914del
r.(?)
p.(Asp305Alafs*46)
-
pathogenic (recessive)
g.42942745del
g.42975007del
914delA
-
PEX6_000058
no variant 2nd chromosome reported
PubMed: Yik 2009
,
MORL Deafness Variation Database
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
,
Nancy Braverman
-?/.
1
-
c.925T>G
r.(?)
p.(Cys309Gly)
-
likely benign
g.42942734A>C
g.42974996A>C
PEX6(NM_000287.3):c.925T>G (p.(Cys309Gly))
-
GNMT_000004
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Leiden
-?/.
1
-
c.988C>T
r.(?)
p.(His330Tyr)
-
likely benign
g.42942671G>A
g.42974933G>A
PEX6(NM_000287.3):c.988C>T (p.H330Y)
-
GNMT_000003
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/.
1
-
c.1027del
r.(?)
p.(Arg343GlyfsTer8)
-
pathogenic
g.42942633del
g.42974895del
PEX6(NM_000287.3):c.1027delC (p.R343Gfs*8)
-
PEX6_000148
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Groningen
+/.
1
3
c.1027_1030dup
r.(?)
p.(His344Profs*42)
-
pathogenic (recessive)
g.42942629_42942632dup
-
1030_1033dupCCGG
-
PEX6_000019
-
-
-
-
Germline
-
-
-
-
-
Nancy Braverman
+/.
1
2i
c.1047-2A>G
r.spl
p.?
-
pathogenic (recessive)
g.42941826T>C
g.42974088T>C
-
-
PEX6_000201
-
PubMed: Ebberink 2010
,
MORL Deafness Variation Database
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
+/+, +/.
2
2i
c.1047-1G>A
r.spl, r.spl?
p.?
-
pathogenic, pathogenic (recessive)
g.42941825C>T
g.42974087C>T
-
-
PEX6_000073, PEX6_000200
-
MORL Deafness Variation Database
,
PubMed: Ebberink 2010
,
PubMed: Xiong 2015
,
PubMed: Ebberink 2010
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
,
Nancy Braverman
+/+, +/.
2
3
c.1054C>T
r.(?), r.1047_1130del
p.(Gln352*), p.Val350_Arg377del
-
pathogenic, pathogenic (recessive)
g.42941817G>A
g.42974079G>A
-
-
PEX6_000075, PEX6_000199
no variant 2nd chromosome reported
MORL Deafness Variation Database
,
PubMed: Ebberink 2010
,
PubMed: Xiong 2015
,
1 more item
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
,
Nancy Braverman
+/.
1
3i
c.1130+1G>A
r.1047_1130del
p.Val350_Arg377del
-
pathogenic (recessive)
g.42941740C>T
g.42974002C>T
-
-
PEX6_000076
no variant 2nd chromosome
PubMed: Fukuda 1996
,
MORL Deafness Variation Database
-
-
Germline
-
-
-
-
-
Nancy Braverman
+/.
1
3i
c.1131-1G>C
r.spl
p.?
-
pathogenic (recessive)
g.42937726C>G
-
-
-
PEX6_000077
-
PubMed: Ebberink 2010
,
MORL Deafness Variation Database
-
-
Germline
-
-
-
-
-
Nancy Braverman
?/.
1
-
c.1171G>A
r.(?)
p.(Glu391Lys)
-
VUS
g.42937685C>T
g.42969947C>T
PEX6(NM_000287.3):c.1171G>A (p.E391K)
-
GNMT_000002
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
+/.
1
4
c.1198T>A
r.(?)
p.(Tyr400Asn)
-
pathogenic (recessive)
g.42937658A>T
-
-
-
PEX6_000078
no variant 2nd chromosome reported
PubMed: Ebberink 2010
,
MORL Deafness Variation Database
-
-
Germline
-
-
-
-
-
Nancy Braverman
+?/.
1
5
c.1238G>T
r.(?)
p.(Gly413Val)
-
likely pathogenic
g.42937535C>A
g.42969797C>A
-
-
PEX6_000120
-
under revision
-
-
Germline
yes
-
-
-
-
Hanno Bolz
+/.
1
5
c.1301del
r.1301del
p.Ser434Phefs*16
-
pathogenic (recessive)
g.42937472del
g.42969734del
1301delC
-
PEX6_000030
-
PubMed: Zhang 1999
,
MORL Deafness Variation Database
-
-
Germline
-
-
-
-
-
Nancy Braverman
+/.
1
-
c.1314_1320del
r.(?)
p.(Glu439Trpfs*9)
-
pathogenic (recessive)
g.42937453_42937459del
-
-
-
PEX6_000011
-
-
-
-
Germline
-
-
-
-
-
Nancy Braverman
+/.
1
5
c.1314_1321del
r.(?)
p.(Glu439Glyfs*3)
-
pathogenic (recessive)
g.42937452_42937459del
-
1314_1321delGGAGGCCT
-
PEX6_000079
-
PubMed: Krause 2009
-
-
Germline
-
-
-
-
-
Nancy Braverman
+/+, +/.
2
5
c.1338_1339del
r.(?)
p.(Ala447Cysfs*17)
-
pathogenic
g.42937436_42937437del
g.42969698_42969699del
-
-
PEX6_000193, PEX6_000233
1 heterozygous, no homozygous;
Clinindb (India)
MORL Deafness Variation Database
,
PubMed: Bean 2013
,
PubMed: Narang 2020
,
Journal: Narang 2020
-
rs398123303
Germline
-
1/2786 individuals
-
-
-
Global Variome, with Curator vacancy
,
Mohammed Faruq
+/.
1
5i
c.1367+1del
r.spl
p.?
-
pathogenic (recessive)
g.42937405del
-
1367+1delG
-
PEX6_000080
no variant 2nd chromosome reported
PubMed: Ebberink 2010
,
MORL Deafness Variation Database
-
-
Germline
-
-
-
-
-
Nancy Braverman
+/.
1
6
c.1404del
r.(?)
p.(Arg469Glyfs*11)
-
pathogenic (recessive)
g.42936687del
-
1404delA
-
PEX6_000081
no variant 2nd chromosome reported
PubMed: Ebberink 2010
,
MORL Deafness Variation Database
-
-
Germline
-
-
-
-
-
Nancy Braverman
+/.
1
6
c.1415dup
r.(?)
p.(Gly473Argfs*13)
-
pathogenic (recessive)
g.42936676dup
-
1415dupC
-
PEX6_000082
-
PubMed: Krause 2006
-
-
Germline
-
-
-
-
-
Nancy Braverman
-/.
1
-
c.1480-5C>T
r.spl?
p.?
-
benign
g.42936241G>A
g.42968503G>A
PEX6(NM_000287.3):c.1480-5C>T
-
CNPY3_000004
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/.
1
7
c.1495del
r.(?)
p.(Leu499Serfs*49)
-
pathogenic (recessive)
g.42936221del
-
1495delC
-
PEX6_000083
no variant 2nd chromosome reported
PubMed: Ebberink 2010
,
MORL Deafness Variation Database
-
-
Germline
-
-
-
-
-
Nancy Braverman
-?/.
1
-
c.1509T>C
r.(?)
p.(Ser503=)
-
likely benign
g.42936207A>G
g.42968469A>G
PEX6(NM_000287.3):c.1509T>C (p.S503=)
-
PEX6_000139
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/.
1
7
c.1532T>G
r.(?)
p.(Leu511Arg)
-
pathogenic (recessive)
g.42936184A>C
-
-
-
PEX6_000084
no variant 2nd chromosome reported
PubMed: Ebberink 2010
,
MORL Deafness Variation Database
-
-
Germline
-
-
-
-
-
Nancy Braverman
+/.
1
7
c.1553C>A
r.(?)
p.(Ala518Asp)
-
pathogenic (recessive)
g.42936163G>T
-
-
-
PEX6_000085
no variant 2nd chromosome reported
PubMed: Ebberink 2010
,
MORL Deafness Variation Database
-
-
Germline
-
-
-
-
-
Nancy Braverman
?/.
1
-
c.1565G>C
r.(?)
p.(Arg522Pro)
-
VUS
g.42936151C>G
g.42968413C>G
PEX6(NM_000287.3):c.1565G>C (p.R522P)
-
CNPY3_000003
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/+
1
7
c.1601T>C
r.(?)
p.(Leu534Pro)
-
pathogenic
g.42936115A>G
g.42968377A>G
-
-
PEX6_000186
-
MORL Deafness Variation Database
,
PubMed: Najmabadi 2011
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
?/.
1
-
c.1607G>A
r.(?)
p.(Arg536Gln)
-
VUS
g.42936109C>T
-
PEX6(NM_000287.3):c.1607G>A (p.R536Q)
-
CNPY3_000008
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
-/., ?/.
4
7
c.1646C>T
r.(?)
p.(Ala549Val)
-
benign, VUS
g.42936070G>A
g.42968332G>A
PEX6(NM_000287.3):c.1646C>T (p.(Ala549Val))
-
PEX6_000059, PEX6_000138
VKGL data sharing initiative Nederland
PubMed: Yik 2009
,
MORL Deafness Variation Database
-
-
CLASSIFICATION record, Germline
-
-
-
-
-
Johan den Dunnen
,
VKGL-NL_Leiden
,
Nancy Braverman
,
VKGL-NL_Nijmegen
-?/.
1
-
c.1680C>T
r.(?)
p.(Pro560=)
-
likely benign
g.42936036G>A
g.42968298G>A
PEX6(NM_000287.3):c.1680C>T (p.P560=)
-
PEX6_000137
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/.
2
7i
c.1688+1G>A
r.[1480_1866del,1368_1866del]
p.?
-
pathogenic (recessive)
g.42936027C>T
g.42968289C>T, g.42978625del
-
-
PEX6_000025
-
PubMed: Zhang 1999
,
MORL Deafness Variation Database
-
-
Germline
-
-
-
-
-
Nancy Braverman
+/.
1
7i
c.1689-1G>T
r.spl
p.?
-
pathogenic (recessive)
g.42935302C>A
-
-
-
PEX6_000086
-
PubMed: Ebberink 2010
,
MORL Deafness Variation Database
-
-
Germline
-
-
-
-
-
Nancy Braverman
?/.
1
-
c.1706T>C
r.(?)
p.(Val569Ala)
-
VUS
g.42935284A>G
g.42967546A>G
PEX6(NM_000287.3):c.1706T>C (p.V569A)
-
PEX6_000136
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/.
1
8
c.1711G>A
r.(?)
p.(Ala571Thr)
-
pathogenic (recessive)
g.42935279C>T
-
-
-
PEX6_000087
no variant 2nd chromosome reported
PubMed: Ebberink 2010
,
MORL Deafness Variation Database
-
-
Germline
-
-
-
-
-
Nancy Braverman
+/+?, +/.
3
8
c.1715C>T
r.(?), r.1715c>u
p.(Thr572Ile), p.Thr572Ile
ACMG
pathogenic, pathogenic (recessive)
g.42935275G>A
g.42967537G>A
-
-
PEX6_000031, PEX6_000182
-
PubMed: Raas-Rothschild 2002
,
MORL Deafness Variation Database
,
PubMed: Sharon 2019
-
-
Germline
yes
3/2420 IRD families
-
-
-
Global Variome, with Curator vacancy
,
Nancy Braverman
+?/+?, ?/.
3
8
c.1718C>T
r.(?)
p.(Thr573Ile)
-
likely pathogenic, VUS
g.42935272G>A
g.42967534G>A
PEX6(NM_000287.3):c.1718C>T (p.T573I)
-
PEX6_000135
VKGL data sharing initiative Nederland
MORL Deafness Variation Database
,
PubMed: Grunert 2014
-
-
CLASSIFICATION record, Germline
-
-
-
-
-
Global Variome, with Curator vacancy
,
VKGL-NL_Rotterdam
,
VKGL-NL_Groningen
+/.
1
8
c.1793_1794del
r.(?)
p.(Glu598Glyfs*63)
-
pathogenic (recessive)
g.42935196_42935197del
-
1793_1794delAG
-
PEX6_000088
no variant 2nd chromosome reported
PubMed: Ebberink 2010
,
MORL Deafness Variation Database
-
-
Germline
-
-
-
-
-
Nancy Braverman
+/.
3
8
c.1801C>T
r.(?), r.1801c>u
p.(Arg601Trp), p.Arg601Trp
-
pathogenic (recessive)
g.42935189G>A
g.42967451G>A
-
-
PEX6_000018
no variant 2nd chromosome reported
{Baltimore 2006:Braverman},
MORL Deafness Variation Database
,
1 more item
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
,
Nancy Braverman
+/., -/.
11
10, 8
c.1802G>A
r.(?)
p.(Arg601Gln), p.Arg601Gln
ACMG
benign, NA, pathogenic, pathogenic (recessive)
g.42935188C>T
g.42967450C>T
-
-
PEX6_000006, PEX6_000125
cDNA expression cloning in PEX6 defective fibroblasts showed reduced complementation (0.35),
1 more item
Doucette 2021, submitted, Trujillano et al., submitted,
PubMed: Ratbi 2015
,
Journal: Ratbi 2015
,
2 more items
ClinVar-198709
rs34324426
Germline, In vitro (cloned)
yes
0.03
-
-
-
Johan den Dunnen
,
Jamie Zeegers
,
Daniel Trujillano
,
Nancy Braverman
,
Lance P Doucette
+/.
1
8
c.1814T>G
r.(?)
p.(Leu605Arg)
-
pathogenic (recessive)
g.42935176A>C
-
-
-
PEX6_000089
-
PubMed: Ebberink 2010
,
MORL Deafness Variation Database
-
-
Germline
-
-
-
-
-
Nancy Braverman
+/.
3
11
c.1841del
r.(?)
p.(Leu614Argfs*5), p.Leu614Argfs*5
-
NA, pathogenic
g.42935149del
g.42967411del
-
-
PEX6_000124
cDNA expression cloning in PEX6 defective fibroblasts showed no complementation (0.00)
PubMed: Ratbi 2015
,
Journal: Ratbi 2015
-
-
Germline, In vitro (cloned)
yes
-
-
-
-
Johan den Dunnen
,
Jamie Zeegers
+/.
3
12
c.1930C>T
r.(?)
p.(Arg644Trp), p.Arg644Trp
-
NA, pathogenic
g.42934551G>A
g.42966813G>A
-
-
PEX6_000123
cDNA expression cloning in PEX6 defective fibroblasts showed reduced complementation (0.25)
PubMed: Ratbi 2015
,
Journal: Ratbi 2015
-
-
Germline, In vitro (cloned)
yes
-
-
-
-
Johan den Dunnen
,
Jamie Zeegers
+/.
1
9
c.1947del
r.(?)
p.(Ile650Serfs*10)
-
pathogenic (recessive)
g.42934534del
-
1946delG
-
PEX6_000090
-
PubMed: Krause 2009
-
-
Germline
-
-
-
-
-
Nancy Braverman
+/.
1
9
c.1958C>G
r.(?)
p.(Ser653*)
-
pathogenic (recessive)
g.42934523G>C
-
-
-
PEX6_000091
no variant 2nd chromosome reported
PubMed: Ebberink 2010
,
MORL Deafness Variation Database
-
-
Germline
-
-
-
-
-
Nancy Braverman
-/.
2
9
c.1961+20G>A
r.(=)
p.(=)
-
benign
g.42934500C>T
g.42966762C>T
PEX6(NM_000287.3):c.1961+20G>A
-
PEX6_000045, PEX6_000134
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record, Germline
-
0.16
-
-
-
Nancy Braverman
,
VKGL-NL_Groningen
+/+, +/.
3
9i
c.1962-1G>A
r.1962_1969del, r.spl, r.spl?
p.?, p.Leu655Trpfs*4
-
pathogenic, pathogenic (recessive)
g.42934396C>T
g.42966658C>T
-
-
PEX6_000034, PEX6_000176
-
MORL Deafness Variation Database
,
PubMed: Nobukuni 1996
,
PubMed: Lalwani 1998
,
PubMed: Xiong 2015
,
2 more items
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
,
Johan den Dunnen
,
Nancy Braverman
10 per page
25 per page
50 per page
100 per page
250 per page
500 per page
1000 per page
Legend
How to query
« First
Prev
1
2
Next
Last »
Powered by
LOVD v.3.0
Build 25c
LOVD software ©2004-2021
Leiden University Medical Center