Global Variome shared LOVD
PEX1 (peroxisomal biogenesis factor 1)
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Curators:
Nancy Braverman
and
Steven Steinberg
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All variants in the PEX1 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_000466.2 transcript reference sequence.
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Effect
: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.
Exon
: number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = from intron 2 to intron 7, 8i_9 = intron 8/exon 9 boundary, _1 = 5' to exon 1, 18_ = 3' of exon 18, _1_18_ = encompassing the entire 18-exon gene
DNA change (cDNA)
: description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup. For deletions/duplications extending beyond the reference transcript resp. {0}/{2} is used to replace del/dup. Extent of the deletion/duplication should be specified using the genomic description (g.). "-" indicates the variant described on genomic level does not affect the coding DNA reference sequence.
RNA change
: description of variant at RNA level (following HGVS recommendations).
r.123c>u
r.? = unknown
r.(?) = RNA not analysed but probably transcribed copy of DNA variant
r.spl? = RNA not analysed but variant probably affects splicing
r.(spl?) = RNA not analysed but variant may affect splicing
r.0? = change expected to abolish transcription
Protein
: description of variant at protein level (following HGVS recommendations).
p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
p.Arg345Pro = change derived from RNA analysis
p.? = unknown effect
p.0? = probably no protein produced
Allele
: On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.
Classification method
: The method used for the clinical classification of this variant.
All options:
ACMG
ACGS
EAHAD-CFDB
ENIGMA
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
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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'
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.
609 entries on 7 pages. Showing entries 1 - 100.
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Effect
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
+/.
21
c.3378C>R
r.(?)
p.(Tyr1126*)
-
pathogenic (recessive)
g.92120646G>Y
g.92491332G>Y
Tyr1126X
-
PEX1_000045
-
PubMed: Preuss 2002
-
-
Germline
-
-
-
0
-
Nancy Braverman
+/.
12
c.?
r.634_690del
p.?
-
pathogenic (recessive)
g.?
-
-
-
PEX1_000047
-
PubMed: Tamura 2001
-
-
Germline
-
-
-
0
-
Nancy Braverman
-/.
-
c.-53C>G
r.(?)
p.(=)
-
benign
g.92157802G>C
g.92528488G>C
-
-
PEX1_000036
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
?/.
1
c.-53C>G
r.(?)
p.?
-
VUS
g.92157802G>C
g.92528488G>C
-
-
PEX1_000036
associated with increased promoter activity
PubMed: Maxwell 2005
-
-
Germline
-
-
-
0
-
Nancy Braverman
?/.
_1
-
r.(?)
p.(=)
-
VUS
g.92157886A>G
g.92528572A>G
-137T>C
-
PEX1_000035
associated with half normal promoter activity
PubMed: Maxwell 2005
-
-
Germline
-
-
-
0
-
Nancy Braverman
?/.
24_
-
r.(?)
p.(=)
-
VUS
g.92113864_92115995del
g.92484550_92486681del
[2927-15_3208-342delinsATAGTATAGA;3849+779_3849+2910del], *776_*2907del
-
PEX1_000073
no variant 2nd chromosome reported
PubMed: Ebberink 2011
-
-
Germline
-
-
-
0
-
Johan den Dunnen
?/.
24_
-
r.(?)
p.(=)
-
VUS
g.92113864_92115995del
g.92484550_92486681del
[2927-15_3208-342delinsATAGTATAGA;3849+776_3849+2907del], *776_*2907del
-
PEX1_000073
no variant 2nd chromosome reported
PubMed: Ebberink 2011
-
-
Germline
-
-
-
0
-
Johan den Dunnen
+/.
13
c.(2226+1_2417-1)?
r.2227_2416del
p.?
-
pathogenic (recessive)
g.(92130988_92132354)?
-
2227_2416del
-
PEX1_000022
no variant 2nd chromosome reported
PubMed: Preuss 2002
-
-
Germline
-
-
-
0
-
Nancy Braverman
+/.
13
c.(2226+1_2417-1)?
r.2227_2416del
p.?
-
pathogenic (recessive)
g.(92130988_92132354)?
-
2227_2416del
-
PEX1_000022
-
PubMed: Preuss 2002
-
-
Germline
-
-
-
0
-
Nancy Braverman
+/.
1
c.2T>C
r.(?)
p.0?
-
pathogenic (recessive)
g.92157748A>G
g.92528434A>G
-
-
PEX1_000076
-
PubMed: Ebberink 2011
-
-
Germline
-
-
-
0
-
Nancy Braverman
+/.
1
c.2T>C
r.(?)
p.0?
-
pathogenic (recessive)
g.92157748A>G
g.92528434A>G
-
-
PEX1_000076
-
PubMed: Ebberink 2011
-
-
Germline
-
-
-
0
-
Nancy Braverman
+/.
1
c.2T>C
r.(?)
p.0?
-
pathogenic (recessive)
g.92157748A>G
g.92528434A>G
-
-
PEX1_000076
-
PubMed: Ebberink 2011
-
-
Germline
-
-
-
0
-
Nancy Braverman
+/+
1
c.3G>A
r.(?)
p.(Met1?)
-
pathogenic
g.92157747C>T
g.92528433C>T
-
-
PEX1_000078
-
MORL Deafness Variation Database
,
PubMed: Steinberg 1993
-
-
Germline
-
-
-
0
-
Global Variome, with Curator vacancy
+/.
1
c.3G>A
r.(?)
p.0?
-
pathogenic (recessive)
g.92157747C>T
g.92528433C>T
-
-
PEX1_000078
-
PubMed: Ebberink 2011
-
-
Germline
-
-
-
0
-
Nancy Braverman
+/.
1
c.5G>A
r.(?)
p.(Trp2*)
-
pathogenic (recessive)
g.92157745C>T
g.92528431C>T
-
-
PEX1_000079
-
PubMed: Ebberink 2011
-
-
Germline
-
-
-
0
-
Nancy Braverman
+/.
1
c.56_57del
r.(?)
p.(Val19Glyfs*48)
-
pathogenic (recessive)
g.92157695_92157696del
g.92528381_92528382del
56_57delTG
-
PEX1_000051
-
PubMed: Ebberink 2011
-
-
Germline
-
-
-
0
-
Nancy Braverman
+/.
1
c.56_57del
r.(?)
p.(Val19Glyfs*48)
-
pathogenic (recessive)
g.92157695_92157696del
g.92528381_92528382del
56_57delTG
-
PEX1_000051
both mutations identified in Waterham clinical lab.
-
-
-
Germline
-
-
-
0
-
Nancy Braverman
+/+
1
c.95_97del
r.(?)
p.(Pro32del)
-
pathogenic
g.92157655_92157657del
g.92528341_92528343del
-
-
PEX1_000253
-
MORL Deafness Variation Database
,
PubMed: Thoms 2011
-
-
Germline
-
-
-
0
-
Global Variome, with Curator vacancy
-?/.
-
c.129+21C>T
r.(=)
p.(=)
-
likely benign
g.92157600G>A
g.92528286G>A
PEX1(NM_001282678.2):c.-531+21C>T
-
PEX1_000119
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
0
-
VKGL-NL_AMC
+/+
1i
c.130-2A>T
r.spl?
p.?
-
pathogenic
g.92151561T>A
g.92522247T>A
-
-
PEX1_000081
-
MORL Deafness Variation Database
, {
PubMed: Xiong 2015
-
-
Germline
-
-
-
0
-
Global Variome, with Curator vacancy
+/.
2
c.130-2A>T
r.spl
p.?
-
pathogenic (recessive)
g.92151561T>A
g.92522247T>A
-
-
PEX1_000081
-
PubMed: Ebberink 2011
-
-
Germline
-
-
-
0
-
Nancy Braverman
-?/.
-
c.147G>A
r.(?)
p.(Val49=)
-
likely benign
g.92151542C>T
g.92522228C>T
PEX1(NM_000466.2):c.147G>A (p.V49=)
-
PEX1_000179
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
?/.
-
c.223G>A
r.(?)
p.(Glu75Lys)
-
VUS
g.92151466C>T
g.92522152C>T
PEX1(NM_000466.2):c.223G>A (p.E75K)
-
PEX1_000178
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/+
2
c.249_250insT
r.(?)
p.(Leu84Serfs*24)
-
pathogenic
g.92151439_92151440insA
g.92522125_92522126insA
-
-
PEX1_000252
-
MORL Deafness Variation Database
,
PubMed: Thoms 2011
-
-
Germline
-
-
-
0
-
Global Variome, with Curator vacancy
+/.
2
c.270del
r.(?)
p.(Gln91Argfs*41)
-
pathogenic (recessive)
g.92151419del
g.92522105del
270delA
-
PEX1_000060
-
PubMed: Yik 2009
,
MORL Deafness Variation Database
-
-
Germline
-
-
-
0
-
Global Variome, with Curator vacancy
+/.
2
c.270del
r.(?)
p.(Gln91Argfs*41)
-
pathogenic (recessive)
g.92151419del
g.92522105del
270delA
-
PEX1_000060
-
-
-
-
Germline
-
-
-
0
-
Nancy Braverman
+/+
2i
c.273+1G>A
r.spl?
p.?
-
pathogenic
g.92151415C>T
g.92522101C>T
-
-
PEX1_000082
-
MORL Deafness Variation Database
,
PubMed: Xiong 2015
-
-
Germline
-
-
-
0
-
Global Variome, with Curator vacancy
+/.
i2
c.273+1G>A
r.spl
p.?
-
pathogenic (recessive)
g.92151415C>T
g.92522101C>T
-
-
PEX1_000082
-
PubMed: Ebberink 2011
-
-
Germline
-
-
-
0
-
Nancy Braverman
+/+
2i
c.274-1G>C
r.spl?
p.?
-
pathogenic
g.92148393C>G
g.92519079C>G
-
-
PEX1_000264
-
MORL Deafness Variation Database
,
PubMed: Thoms 2011
-
-
Germline
-
-
-
0
-
Global Variome, with Curator vacancy
+/+
3
c.274G>C
r.(?)
p.(Val92Leu)
-
pathogenic
g.92148392C>G
g.92519078C>G
-
-
PEX1_000265
-
MORL Deafness Variation Database
,
PubMed: Rosewich 2005
-
-
Germline
-
-
-
0
-
Global Variome, with Curator vacancy
+?/.
-
c.274G>C
r.(?)
p.(Val92Leu)
ACMG
pathogenic (recessive)
g.92148392C>G
g.92519078C>G
-
-
PEX1_000265
-
-
-
-
Germline
yes
-
-
0
-
Sandro Banfi
-/.
-
c.330C>G
r.(?)
p.(Pro110=)
-
benign
g.92148336G>C
g.92519022G>C
PEX1(NM_000466.2):c.330C>G (p.P110=)
-
PEX1_000118
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
0
-
VKGL-NL_AMC
-?/.
-
c.330C>G
r.(?)
p.(Pro110=)
-
likely benign
g.92148336G>C
g.92519022G>C
PEX1(NM_000466.2):c.330C>G (p.P110=)
-
PEX1_000118
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
0
-
VKGL-NL_Rotterdam
-/-
3
c.330C>G
r.(=)
p.(=)
-
benign
g.92148336G>C
g.92519022G>C
-
-
PEX1_000118
-
MORL Deafness Variation Database
,
PubMed: Bean 2013
-
-
Germline
-
-
-
0
-
Global Variome, with Curator vacancy
+/.
3
c.343_344insCT
r.(?)
p.(Asp115Alafs*18)
-
pathogenic (recessive)
g.92148322_92148323insAG
g.92519008_92519009insAG
-
-
PEX1_000083
-
PubMed: Ebberink 2011
-
-
Germline
-
-
-
0
-
Nancy Braverman
-/.
-
c.358-15G>A
r.(=)
p.(=)
-
benign
g.92147584C>T
g.92518270C>T
PEX1(NM_000466.2):c.358-15G>A, PEX1(NM_001282678.1):c.-267-15G>A, PEX1(NM_001282678.2):c.-267-15G>A
-
PEX1_000117
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
0
-
VKGL-NL_AMC
-/.
-
c.358-15G>A
r.(=)
p.(=)
-
benign
g.92147584C>T
g.92518270C>T
PEX1(NM_000466.2):c.358-15G>A, PEX1(NM_001282678.1):c.-267-15G>A, PEX1(NM_001282678.2):c.-267-15G>A
-
PEX1_000117
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
0
-
VKGL-NL_Groningen
-/.
-
c.358-15G>A
r.(=)
p.(=)
-
benign
g.92147584C>T
g.92518270C>T
PEX1(NM_000466.2):c.358-15G>A, PEX1(NM_001282678.1):c.-267-15G>A, PEX1(NM_001282678.2):c.-267-15G>A
-
PEX1_000117
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
-/.
-
c.358-11G>C
r.(=)
p.(=)
-
benign
g.92147580C>G
g.92518266C>G
PEX1(NM_001282678.2):c.-267-11G>C
-
PEX1_000138
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
0
-
VKGL-NL_AMC
+?/+?
4
c.382C>A
r.(?)
p.(Gln128Lys)
-
likely pathogenic
g.92147545G>T
g.92518231G>T
-
-
PEX1_000268
-
MORL Deafness Variation Database
,
PubMed: Fromer 2014
-
-
Germline
-
-
-
0
-
Global Variome, with Curator vacancy
-?/.
-
c.400A>G
r.(?)
p.(Ile134Val)
-
likely benign
g.92147527T>C
g.92518213T>C
PEX1(NM_000466.2):c.400A>G (p.I134V)
-
PEX1_000116
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
0
-
VKGL-NL_AMC
+/.
-
c.403C>T
r.(?)
p.(Arg135Ter)
-
pathogenic
g.92147524G>A
g.92518210G>A
-
-
PEX1_000193
-
-
-
-
Unknown
-
-
-
0
-
IMGAG
?/.
-
c.412T>C
r.(?)
p.(Phe138Leu)
-
VUS
g.92147515A>G
g.92518201A>G
PEX1(NM_000466.2):c.412T>C (p.F138L)
-
PEX1_000191
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/.
4
c.434_448delinsGCAA
r.(?)
p.(Val145Glyfs*24)
-
pathogenic (recessive)
g.92147479_92147493delinsTTGC
g.92518165_92518179delinsTTGC
-
-
PEX1_000027
-
PubMed: Walter 2001
-
-
Germline
-
-
-
0
-
Nancy Braverman
-?/.
-
c.453G>A
r.(?)
p.(Thr151=)
-
likely benign
g.92147474C>T
g.92518160C>T
PEX1(NM_000466.2):c.453G>A (p.T151=)
-
PEX1_000137
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
0
-
VKGL-NL_Rotterdam
?/.
-
c.455A>G
r.(?)
p.(Tyr152Cys)
-
VUS
g.92147472T>C
g.92518158T>C
PEX1(NM_000466.2):c.455A>G (p.Y152C)
-
PEX1_000176
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
?/.
-
c.457A>C
r.(?)
p.(Ile153Leu)
-
VUS
g.92147470T>G
g.92518156T>G
PEX1(NM_000466.2):c.457A>C (p.I153L)
-
PEX1_000175
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Groningen
-?/.
-
c.468A>G
r.(?)
p.(Gln156=)
-
likely benign
g.92147459T>C
g.92518145T>C
PEX1(NM_000466.2):c.468A>G (p.Q156=)
-
PEX1_000115
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
0
-
VKGL-NL_Rotterdam
-/.
-
c.473-18G>A
r.(=)
p.(=)
-
benign
g.92147374C>T
g.92518060C>T
PEX1(NM_001282678.2):c.-152-18G>A
-
PEX1_000136
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
0
-
VKGL-NL_AMC
-/.
-
c.473-3C>T
r.spl?
p.?
-
benign
g.92147359G>A
g.92518045G>A
PEX1(NM_001282678.1):c.-152-3C>T, PEX1(NM_001282678.2):c.-152-3C>T
-
PEX1_000114
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
0
-
VKGL-NL_Rotterdam
-/.
-
c.473-3C>T
r.spl?
p.?
-
benign
g.92147359G>A
g.92518045G>A
PEX1(NM_001282678.1):c.-152-3C>T, PEX1(NM_001282678.2):c.-152-3C>T
-
PEX1_000114
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
-?/.
-
c.473-3C>T
r.spl?
p.?
-
likely benign
g.92147359G>A
g.92518045G>A
PEX1(NM_001282678.1):c.-152-3C>T, PEX1(NM_001282678.2):c.-152-3C>T
-
PEX1_000114
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Utrecht
+/+
4i
c.473-1G>A
r.spl?
p.?
-
pathogenic
g.92147357C>T
g.92518043C>T
-
-
PEX1_000053
-
MORL Deafness Variation Database
,
PubMed: Yik 2009
,
PubMed: Xiong 2015
-
-
Germline
-
-
-
0
-
Global Variome, with Curator vacancy
+/.
4
c.473-1G>A
r.spl
p.?
-
pathogenic (recessive)
g.92147357C>T
g.92518043C>T
-
-
PEX1_000053
-
-
-
-
Germline
-
-
-
0
-
Nancy Braverman
+/.
4i
c.473-1G>A
r.spl
p.?
-
pathogenic (recessive)
g.92147357C>T
g.92518043C>T
-
-
PEX1_000053
-
PubMed: Yik 2009
-
-
Germline
-
-
-
0
-
Johan den Dunnen
+/+
5
c.475G>C
r.(?)
p.(Ala159Pro)
-
pathogenic
g.92147354C>G
g.92518040C>G
-
-
PEX1_000267
-
MORL Deafness Variation Database
,
PubMed: Sun 2013
-
-
Germline
-
-
-
0
-
Global Variome, with Curator vacancy
+/+
5
c.547C>T
r.(?)
p.(Arg183*)
-
pathogenic
g.92147282G>A
g.92517968G>A
-
-
PEX1_000056
-
MORL Deafness Variation Database
,
PubMed: Yik 2009
,
PubMed: Xiong 2015
-
-
Germline
-
-
-
0
-
Global Variome, with Curator vacancy
+/.
5
c.547C>T
r.(?)
p.(Arg183*)
-
pathogenic (recessive)
g.92147282G>A
g.92517968G>A
-
-
PEX1_000056
-
-
-
-
Germline
-
-
-
0
-
Nancy Braverman
+/.
5
c.547C>T
r.(?)
p.(Arg183*)
-
pathogenic (recessive)
g.92147282G>A
g.92517968G>A
-
-
PEX1_000056
-
-
-
-
Germline
-
-
-
0
-
Nancy Braverman
+/.
-
c.547C>T
r.(?)
p.(Arg183*)
-
pathogenic (recessive)
g.92147282G>A
-
-
-
PEX1_000056
-
PubMed: Yik 2009
,
MORL Deafness Variation Database
-
-
Germline
-
-
-
0
-
Johan den Dunnen
+/.
5
c.547C>T
r.(?)
p.(Arg183*)
-
pathogenic (recessive)
g.92147282G>A
g.92517968G>A
643_647delACCAA
-
PEX1_000056
-
PubMed: Yik 2009
-
-
Germline
-
-
-
0
-
Johan den Dunnen
+/+
5
c.569C>A
r.(?)
p.(Ser190*)
-
pathogenic
g.92147260G>T
g.92517946G>T
-
-
PEX1_000084
-
MORL Deafness Variation Database
,
PubMed: Xiong 2015
-
-
Germline
-
-
-
0
-
Global Variome, with Curator vacancy
+/.
5
c.569C>A
r.(?)
p.(Ser190*)
-
pathogenic (recessive)
g.92147260G>T
g.92517946G>T
-
-
PEX1_000084
-
PubMed: Ebberink 2011
-
-
Germline
-
-
-
0
-
Nancy Braverman
+/.
5
c.569C>A
r.(?)
p.(Ser190*)
-
pathogenic (recessive)
g.92147260G>T
g.92517946G>T
-
-
PEX1_000084
-
PubMed: Ebberink 2011
-
-
Germline
-
-
-
0
-
Nancy Braverman
+/.
5
c.569C>A
r.(?)
p.(Ser190*)
-
pathogenic (recessive)
g.92147260G>T
g.92517946G>T
-
-
PEX1_000084
-
PubMed: Ebberink 2011
-
-
Germline
-
-
-
0
-
Nancy Braverman
+/.
5
c.569C>A
r.(?)
p.(Ser190*)
-
pathogenic (recessive)
g.92147260G>T
g.92517946G>T
-
-
PEX1_000084
-
PubMed: Ebberink 2011
-
-
Germline
-
-
-
0
-
Nancy Braverman
?/.
-
c.574G>A
r.(?)
p.(Ala192Thr)
-
VUS
g.92147255C>T
g.92517941C>T
PEX1(NM_000466.2):c.574G>A (p.A192T)
-
PEX1_000173
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/+
5
c.616C>T
r.(?)
p.(Gln206*)
-
pathogenic
g.92147213G>A
g.92517899G>A
-
-
PEX1_000085
-
MORL Deafness Variation Database
,
PubMed: Xiong 2015
-
-
Germline
-
-
-
0
-
Global Variome, with Curator vacancy
+/.
5
c.616C>T
r.(?)
p.(Gln206*)
-
pathogenic (recessive)
g.92147213G>A
g.92517899G>A
-
-
PEX1_000085
-
PubMed: Ebberink 2011
-
-
Germline
-
-
-
0
-
Nancy Braverman
?/.
-
c.627G>A
r.(?)
p.(Met209Ile)
-
VUS
g.92147202C>T
g.92517888C>T
PEX1(NM_000466.2):c.627G>A (p.(Met209Ile)), PEX1(NM_001282678.1):c.3G>A (p.M1?)
-
PEX1_000172
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
0
-
VKGL-NL_Leiden
?/.
-
c.627G>A
r.(?)
p.(Met209Ile)
-
VUS
g.92147202C>T
g.92517888C>T
PEX1(NM_000466.2):c.627G>A (p.(Met209Ile)), PEX1(NM_001282678.1):c.3G>A (p.M1?)
-
PEX1_000172
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
-/.
-
c.637C>T
r.(?)
p.(Leu213Phe)
-
benign
g.92147192G>A
g.92517878G>A
PEX1(NM_000466.2):c.637C>T (p.(Leu213Phe)), PEX1(NM_001282678.1):c.13C>T (p.L5F), PEX1(NM_001282678.2):c.13C>T (p.L5F)
-
PEX1_000113
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
0
-
VKGL-NL_AMC
-?/.
-
c.637C>T
r.(?)
p.(Leu213Phe)
-
likely benign
g.92147192G>A
g.92517878G>A
PEX1(NM_000466.2):c.637C>T (p.(Leu213Phe)), PEX1(NM_001282678.1):c.13C>T (p.L5F), PEX1(NM_001282678.2):c.13C>T (p.L5F)
-
PEX1_000113
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
0
-
VKGL-NL_Leiden
-?/.
-
c.637C>T
r.(?)
p.(Leu213Phe)
-
likely benign
g.92147192G>A
g.92517878G>A
PEX1(NM_000466.2):c.637C>T (p.(Leu213Phe)), PEX1(NM_001282678.1):c.13C>T (p.L5F), PEX1(NM_001282678.2):c.13C>T (p.L5F)
-
PEX1_000113
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/+
5
c.643_647del
r.(?)
p.(Thr215Alafs*11)
-
pathogenic
g.92147185_92147189del
g.92517871_92517875del
-
-
PEX1_000061
-
MORL Deafness Variation Database
,
PubMed: Rosewich 2005
,
PubMed: Steinberg 1993
,
PubMed: Yik 2009
-
-
Germline
-
-
-
0
-
Global Variome, with Curator vacancy
+/.
5
c.643_647del
r.(?)
p.(Thr215Alafs*11)
-
pathogenic (recessive)
g.92147185_92147189del
g.92517871_92517875del
643_647delACCAA
-
PEX1_000061
-
-
-
-
Germline
-
-
-
0
-
Nancy Braverman
+/.
5
c.643_647del
r.(?)
p.(Thr215Alafs*11)
-
pathogenic (recessive)
g.92147185_92147189del
g.92517871_92517875del
782_783delAA
-
PEX1_000061
-
PubMed: Yik 2009
-
-
Germline
-
-
-
0
-
Johan den Dunnen
-?/.
-
c.645C>G
r.(?)
p.(Thr215=)
-
likely benign
g.92147184G>C
g.92517870G>C
PEX1(NM_001282678.2):c.21C>G (p.T7=)
-
PEX1_000171
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
+?/+?
5
c.657_660del
r.(?)
p.(Ser220Ilefs*22)
-
likely pathogenic
g.92147172_92147175del
g.92517858_92517861del
-
-
PEX1_000270
-
MORL Deafness Variation Database
,
PubMed: Richards 2015
-
-
Germline
-
-
-
0
-
Global Variome, with Curator vacancy
?/?
5
c.674T>A
r.(?)
p.(Ile225Asn)
-
VUS
g.92147155A>T
g.92517841A>T
-
-
PEX1_000271
-
MORL Deafness Variation Database
,
PubMed: Bean 2013
-
-
Germline
-
-
-
0
-
Global Variome, with Curator vacancy
?/.
-
c.686A>G
r.(?)
p.(Asn229Ser)
-
VUS
g.92147143T>C
g.92517829T>C
PEX1(NM_000466.2):c.686A>G (p.(Asn229Ser))
-
PEX1_000170
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
0
-
VKGL-NL_Leiden
+/+
5
c.724G>A
r.(?)
p.(Val242Ile)
-
pathogenic
g.92147105C>T
g.92517791C>T
-
-
PEX1_000273
-
MORL Deafness Variation Database
,
PubMed: Thoms 2011
-
-
Germline
-
-
-
0
-
Global Variome, with Curator vacancy
?/.
-
c.770C>T
r.(?)
p.(Ser257Phe)
-
VUS
g.92147059G>A
g.92517745G>A
PEX1(NM_001282678.2):c.146C>T (p.S49F)
-
PEX1_000190
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
+/+
5
c.781C>T
r.(?)
p.(Gln261*)
-
pathogenic
g.92147048G>A
g.92517734G>A
-
-
PEX1_000043
-
MORL Deafness Variation Database
,
PubMed: Xiong 2015
-
-
Germline
-
-
-
0
-
Global Variome, with Curator vacancy
+/.
5
c.781C>T
r.781c>u
p.Gln261*
-
pathogenic (recessive)
g.92147048G>A
g.92517734G>A
-
-
PEX1_000043
-
PubMed: Tamura 2001
-
-
Germline
-
-
-
0
-
Nancy Braverman
+/+
5
c.782_783del
r.(?)
p.(Gln261Argfs*8)
-
pathogenic
g.92147046_92147047del
g.92517732_92517733del
-
-
PEX1_000062
-
MORL Deafness Variation Database
,
PubMed: Sun 2013
,
PubMed: Steinberg 1993
,
PubMed: Yik 2009
-
-
Germline
-
-
-
0
-
Global Variome, with Curator vacancy
+/.
-
c.782_783del
r.(?)
p.(Gln261Argfs*8)
-
pathogenic
g.92147046_92147047del
-
-
-
PEX1_000062
-
-
-
-
Germline
-
-
-
0
-
Sha Hong
+/.
5
c.782_783del
r.(?)
p.(Gln261Argfs*8)
-
pathogenic (recessive)
g.92147046_92147047del
g.92517732_92517733del
782_783delAA
-
PEX1_000062
-
-
-
-
Germline
-
-
-
0
-
Nancy Braverman
+/.
5
c.782_783del
r.(?)
p.(Gln261Argfs*8)
-
pathogenic (recessive)
g.92147046_92147047del
g.92517732_92517733del
782_783delAA
-
PEX1_000062
-
-
-
-
Germline
-
-
-
0
-
Nancy Braverman
+/.
5
c.782_783del
r.(?)
p.(Gln261Argfs*8)
-
pathogenic (recessive)
g.92147046_92147047del
g.92517732_92517733del
782_783delAA
-
PEX1_000062
-
PubMed: Yik 2009
-
-
Germline
-
-
-
0
-
Johan den Dunnen
+/.
5
c.782_783del
r.(?)
p.(Gln261Argfs*8)
-
pathogenic (recessive)
g.92147046_92147047del
g.92517732_92517733del
1714_1715delCA
-
PEX1_000062
-
PubMed: Yik 2009
-
-
Germline
-
-
-
0
-
Johan den Dunnen
+/.
5
c.788_789del
r.(?)
p.(Thr263Ilefs*6)
-
pathogenic (recessive)
g.92147041_92147042del
g.92517727_92517728del
788_789delCA
-
PEX1_000025
-
PubMed: Walter 2001
-
-
Germline
-
-
-
0
-
Nancy Braverman
-/.
-
c.812A>G
r.(?)
p.(Asn271Ser)
-
benign
g.92147017T>C
g.92517703T>C
PEX1(NM_000466.2):c.812A>G (p.(Asn271Ser)), PEX1(NM_001282678.1):c.188A>G (p.N63S)
-
PEX1_000169
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
-?/.
-
c.812A>G
r.(?)
p.(Asn271Ser)
-
likely benign
g.92147017T>C
g.92517703T>C
PEX1(NM_000466.2):c.812A>G (p.(Asn271Ser)), PEX1(NM_001282678.1):c.188A>G (p.N63S)
-
PEX1_000169
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Leiden
-?/.
-
c.897C>T
r.(?)
p.(Asn299=)
-
likely benign
g.92146932G>A
g.92517618G>A
PEX1(NM_001282678.2):c.273C>T (p.N91=)
-
PEX1_000168
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
+/.
5
c.904del
r.(?)
p.(Ala302Glnfs*23)
-
pathogenic (recessive)
g.92146925del
g.92517611del
904delG
-
PEX1_000011
-
PubMed: Maxwell 2002
-
-
Germline
-
-
-
0
-
Nancy Braverman
+/+
5
c.911_912del
r.(?)
p.(Ser304Cysfs*4)
-
pathogenic
g.92146919_92146920del
g.92517605_92517606del
-
-
PEX1_000274
-
MORL Deafness Variation Database
,
PubMed: Rosewich 2005
,
PubMed: Steinberg 1993
,
PubMed: Ebberink 2011
-
-
Germline
-
-
-
0
-
Global Variome, with Curator vacancy
-?/.
-
c.920A>C
r.(?)
p.(His307Pro)
-
likely benign
g.92146909T>G
g.92517595T>G
PEX1(NM_000466.2):c.920A>C (p.(His307Pro))
-
PEX1_000167
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
0
-
VKGL-NL_Leiden
-?/.
-
c.939T>C
r.(?)
p.(His313=)
-
likely benign
g.92146890A>G
g.92517576A>G
PEX1(NM_001282678.1):c.315T>C (p.H105=)
-
PEX1_000165
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
-?/.
-
c.969T>C
r.(?)
p.(Asp323=)
-
likely benign
g.92146860A>G
-
PEX1(NM_001282678.2):c.345T>C (p.D115=)
-
PEX1_000311
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
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