Global Variome shared LOVD
VCP (valosin containing protein)
LOVD v.3.0 Build 28d [
Current LOVD status
]
Register as submitter
|
Log in
Curator:
Johan den Dunnen
View all genes
View VCP gene homepage
View graphs about the VCP gene database
Create a new gene entry
View all transcripts
View all transcripts of gene VCP
Create a new transcript information entry
View all variants
View all variants affecting transcripts
View unique variants in gene VCP
View all variants in gene VCP
Full data view for gene VCP
Create a new data submission
View active genomic custom columns
Enable more genomic custom columns
View all individuals
View all individuals with variants in gene VCP
Create a new data submission
View active custom columns
Enable more custom columns
View all diseases
View all diseases associated with gene VCP
Create a new disease information entry
View available phenotype columns
View all screenings
View all screenings for gene VCP
Create a new data submission
View active custom columns
Enable more custom columns
Submit new data
Unique variants in the VCP gene
This database is one of the gene variant databases from the
"Leiden Muscular Dystrophy pages" (LMDp)
.
The variants shown are described using the NM_007126.3 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)
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.
86 entries on 1 page. Showing entries 1 - 86.
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
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
-
c.-4942T>G
r.(?)
p.(=)
-
likely benign
g.35077292A>C
g.35077295A>C
FANCG(NM_004629.1):c.615T>G (p.D205E)
-
FANCG_000076
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/.
1
-
c.-4920_-4914del
r.(?)
p.(=)
-
pathogenic
g.35077267_35077273del
-
-
-
FANCG_000037
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
-/.
2
-
c.-4405C>T
r.(?)
p.(=)
-
benign
g.35076755G>A
g.35076758G>A
FANCG(NM_004629.1):c.890C>T (p.T297I), FANCG(NM_004629.2):c.890C>T (p.T297I)
-
FANCG_000038
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Utrecht
,
VKGL-NL_VUmc
-/.
2
-
c.-4167C>T
r.(?)
p.(=)
-
benign
g.35076517G>A
g.35076520G>A
FANCG(NM_004629.1):c.988C>T (p.P330S), FANCG(NM_004629.2):c.988C>T (p.P330S)
-
FANCG_000075
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Utrecht
,
VKGL-NL_VUmc
-/., -?/.
2
-
c.-3619C>T
r.(?)
p.(=)
-
benign, likely benign
g.35075969G>A
g.35075972G>A
FANCG(NM_004629.1):c.1133C>T (p.(Ser378Leu)), FANCG(NM_004629.2):c.1133C>T (p.S378L)
-
FANCG_000073
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Leiden
,
VKGL-NL_VUmc
-?/.
1
-
c.-3388C>T
r.(?)
p.(=)
-
likely benign
g.35075738G>A
g.35075741G>A
FANCG(NM_004629.2):c.1157C>T (p.P386L)
-
FANCG_000072
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_VUmc
-?/.
1
-
c.-3210G>A
r.(?)
p.(=)
-
likely benign
g.35075560C>T
-
FANCG(NM_004629.1):c.1335G>A (p.L445=)
-
FANCG_000080
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Utrecht
-/., -?/.
3
-
c.-2672G>A
r.(?)
p.(=)
-
benign, likely benign
g.35075022C>T
g.35075025C>T
FANCG(NM_004629.1):c.1538G>A (p.(Arg513Gln), p.R513Q), FANCG(NM_004629.2):c.1538G>A (p.R513Q)
-
FANCG_000040
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Leiden
,
VKGL-NL_Utrecht
,
VKGL-NL_VUmc
-?/.
1
-
c.-2623G>A
r.(?)
p.(=)
-
likely benign
g.35074973C>T
g.35074976C>T
FANCG(NM_004629.1):c.1587G>A (p.Q529=)
-
FANCG_000071
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
-/.
1
-
c.-2567A>G
r.(?)
p.(=)
-
benign
g.35074917T>C
g.35074920T>C
FANCG(NM_004629.2):c.1636+7A>G
-
FANCG_000070
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Groningen
-/., -?/.
3
-
c.18-5T>C
r.spl?
p.?
-
benign, likely benign
g.35068364A>G
g.35068367A>G
VCP(NM_007126.3):c.18-5T>C, VCP(NM_007126.5):c.18-5T>C
-
VCP_000054
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Utrecht
,
VKGL-NL_VUmc
,
VKGL-NL_AMC
-?/., ?/.
2
-
c.79A>G
r.(?)
p.(Ile27Val)
-
likely benign, VUS
g.35068298T>C
g.35068301T>C
VCP(NM_007126.3):c.79A>G (p.I27V), VCP(NM_007126.5):c.79A>G (p.I27V)
-
VCP_000053
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
,
VKGL-NL_AMC
?/.
1
-
c.91G>A
r.(?)
p.(Ala31Thr)
-
VUS
g.35068286C>T
g.35068289C>T
VCP(NM_007126.5):c.91G>A (p.A31T)
-
VCP_000052
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_VUmc
-?/.
1
-
c.234T>C
r.(?)
p.(Ser78=)
-
likely benign
g.35067956A>G
g.35067959A>G
VCP(NM_007126.5):c.234T>C (p.S78=)
-
VCP_000051
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
?/.
1
-
c.237T>G
r.(?)
p.(Asp79Glu)
-
VUS
g.35067953A>C
-
VCP(NM_007126.5):c.237T>G (p.D79E)
-
VCP_000074
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
+?/.
1
-
c.248G>A
r.(?)
p.(Arg83Gln)
-
likely pathogenic
g.35067942C>T
g.35067945C>T
VCP(NM_007126.3):c.248G>A (p.R83Q)
-
VCP_000047
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Utrecht
+/+, +/., +?/.
5
3
c.(277C>T), c.277C>T
r.(?)
p.(Arg93Cys)
ACMG
likely pathogenic, pathogenic, pathogenic (dominant)
g.35067913G>A
g.35067916G>A
-
-
VCP_000027
Point mutation in coding region predicting an amino acid substitution,
1 more item
PubMed: Evilä 2016
-
-
Germline, Unknown
no, yes
-
-
-
-
Johan den Dunnen
,
Andreas Laner
,
Marc Cruts
+?/., ?/.
2
3
c.278G>A
r.(?)
p.(Arg93His)
-
likely pathogenic, VUS
g.35067912C>T
g.35067915C>T
-
-
VCP_000012
de novo occurrence testing, unaffected father, VKGL data sharing initiative Nederland
PubMed: Neveling 2013
,
PubMed: van de Warrenburg 2016
,
Journal: van de Warrenburg 2016
-
-
CLASSIFICATION record, Germline
-
-
-
-
-
Marcel Nelen
,
VKGL-NL_Nijmegen
+/+, +/.
3
3
c.(283C>G), c.283C>G
r.(?), r.283c>g
p.(Arg95Gly), p.Arg95Gly
-
NA, pathogenic
g.35067907G>C
g.35067910G>C
-
-
VCP_000004
not in >180 control chromosomes,
2 more items
PubMed: Watts 2004
,
OMIM:var0004
,
PubMed: Weihl 2006
,
OMIM:var0004
-
-
Germline, In vitro (cloned), Unknown
yes
-
RsaI-
-
-
Johan den Dunnen
,
Marc Cruts
+/+
1
3
c.(283C>T)
r.(?)
p.(Arg95Cys)
-
pathogenic
g.35067907G>A
g.35067910G>A
-
-
VCP_000026
Point mutation in coding region predicting an amino acid substitution
-
-
-
Unknown
no
-
-
-
-
Marc Cruts
?/?
3
3
c.(284G>A)
r.(?)
p.(Arg95His)
-
VUS
g.35067906C>T
g.35067909C>T
-
-
VCP_000025
1 more item
-
-
-
Unknown
no
-
-
-
-
Marc Cruts
-?/., ?/.
5
-
c.340A>G
r.(?)
p.(Ile114Val)
-
likely benign, VUS
g.35066777T>C
g.35066780T>C
1 more item
-
VCP_000050
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Leiden
,
VKGL-NL_Rotterdam
,
VKGL-NL_Nijmegen
,
VKGL-NL_VUmc
,
VKGL-NL_AMC
?/.
1
4
c.376A>T
r.(?)
p.(Ile126Phe)
-
VUS
g.35066741T>A
g.35066744T>A
-
-
VCP_000011
-
-
-
-
Unknown
-
-
-
-
-
Shiro Matsubara
?/.
1
4
c.383G>C
r.(?)
p.(Gly128Ala)
-
VUS
g.35066734C>G
g.35066737C>G
-
-
VCP_000009
-
-
-
-
Unknown
-
-
-
-
-
Tom Winder
+?/.
1
4
c.383G>T
r.(?)
p.(Gly128Val)
-
likely pathogenic
g.35066734C>A
g.35066737C>A
-
-
VCP_000013
-
-
-
-
Germline
yes
-
-
-
-
Gisela Nogales
+/+, +/.
2
4
c.410C>T
r.(?)
p.(Pro137Leu)
-
pathogenic
g.35066707G>A
g.35066710G>A
-
-
VCP_000024
Point mutation in coding region predicting an amino acid substitution,
1 more item
-
-
-
CLASSIFICATION record, Unknown
no
-
-
-
-
VKGL-NL_Nijmegen
,
Marc Cruts
-?/.
1
-
c.411G>C
r.(?)
p.(Pro137=)
-
likely benign
g.35066706C>G
g.35066709C>G
VCP(NM_007126.5):c.411G>C (p.P137=)
-
VCP_000072
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_VUmc
-?/.
1
-
c.445+92dup
r.(=)
p.(=)
-
likely benign
g.35066592dup
g.35066595dup
VCP(NM_007126.3):c.445+92dupT
-
VCP_000066
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Utrecht
-?/.
2
-
c.446-17A>G
r.(=)
p.(=)
-
likely benign
g.35065395T>C
g.35065398T>C
VCP(NM_007126.3):c.446-17A>G, VCP(NM_007126.5):c.446-17A>G
-
VCP_000065
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Utrecht
,
VKGL-NL_AMC
+/.
1
5
c.451A>G
r.(?)
p.(Ile151Val)
-
pathogenic
g.35065373T>C
g.35065376T>C
-
-
VCP_000010
-
-
-
-
De novo
-
-
-
-
-
Robert Boland-Freitas
+/+
1
5
c.(463C>A)
r.(?)
p.(Arg155Ser)
-
pathogenic
g.35065361G>T
g.35065364G>T
-
-
VCP_000023
Point mutation in coding region predicting an amino acid substitution
-
-
-
Unknown
no
-
-
-
-
Marc Cruts
+/+, +/., +?/.
15
5
c.(463C>T), c.463C>T
r.(?)
p.(Arg155Cys)
ACMG
likely pathogenic, pathogenic
g.35065361G>A
g.35065364G>A
-
-
VCP_000002
ACMG PM1, PM2, PM5, PP3, PP4_mod, mapped by linkage, haplogroup-B; not in >180 control chromosomes,
1 more item
PubMed: Cerino 2022
,
PubMed: Park 2017
,
PubMed: Watts 2004
,
OMIM:var0002
-
-
Germline, Unknown
no, yes
1/209 cases
-
-
-
Johan den Dunnen
,
Marc Cruts
+/+, +/.
24
5
c.(464G>A), c.464G>A
r.(?), r.464g>a
p.(Arg155His), p.Arg155His
-
NA, pathogenic
g.35065360C>T
g.35065363C>T
VCP(NM_007126.3):c.464G>A (p.R155H)
-
VCP_000001
mapped by linkage, haplogroup-A; not in >180 control chromosomes, no second variant,
4 more items
PubMed: Nallamilli 2018
,
PubMed: Thomas 2022
,
PubMed: Viassolo 2008
,
OMIM:var0001
,
2 more items
-
-
CLASSIFICATION record, Germline, Germline/De novo (untested), In vitro (cloned), Unknown
no, yes
-
-
-
-
Johan den Dunnen
,
Madhuri Hegde
,
Tom Winder
,
VKGL-NL_Utrecht
,
VKGL-NL_Nijmegen
,
Marc Cruts
+/+, +/.
2
5
c.(464G>C), c.464G>C
r.(?)
p.(Arg155Pro)
-
pathogenic
g.35065360C>G
g.35065363C>G
-
-
VCP_000005
not in >180 control chromosomes,
1 more item
PubMed: Watts 2004
,
OMIM:var0005
-
-
Germline, Unknown
yes
-
-
-
-
Johan den Dunnen
,
Marc Cruts
?/?
1
5
c.464G>T
r.(?)
p.(Arg155Leu)
-
VUS
g.35065360C>A
g.35065363C>A
-
-
VCP_000022
Point mutation in coding region predicting an amino acid substitution
-
-
-
Unknown
no
-
-
-
-
Marc Cruts
+/+
2
5
c.(469G>C)
r.(?)
p.(Gly157Arg)
-
pathogenic
g.35065355C>G
g.35065358C>G
-
-
VCP_000021
Point mutation in coding region predicting an amino acid substitution
-
-
-
Unknown
no, yes
-
-
-
-
Marc Cruts
+/+, +/.
4
5
c.(475C>T), c.475C>T
r.(?)
p.(Arg159Cys)
-
pathogenic
g.35065349G>A
g.35065352G>A
VCP(NM_007126.3):c.475C>T (p.R159C)
-
VCP_000020
Point mutation in coding region predicting an amino acid substitution,
1 more item
-
-
-
CLASSIFICATION record, Unknown
no
-
-
-
-
VKGL-NL_Utrecht
,
VKGL-NL_Nijmegen
,
Marc Cruts
+/+, +/., +?/.
11
5
c.(476G>A), c.476G>A
r.(?)
p.(Arg159His)
-
likely pathogenic, pathogenic
g.35065348C>T
g.35065351C>T
688G>A, VCP(NM_007126.3):c.476G>A (p.R159H)
-
VCP_000008
combination of variants not reported, not in 314 control chromosomes, not in 384 control chromosomes,
2 more items
PubMed: Haubenberger 2005
,
PubMed: van der Zee 2009
,
OMIM:var0007
,
PubMed: Nallamilli 2018
,
2 more items
-
-
CLASSIFICATION record, Germline, Unknown
no, yes
2/1001 cases
-
-
-
Johan den Dunnen
,
Madhuri Hegde
,
VKGL-NL_Utrecht
,
VKGL-NL_Nijmegen
,
Marc Cruts
+/+, +/.
8
5
c.(572G>A), c.572G>A
r.(?)
p.(Arg191Gln)
-
pathogenic, pathogenic (dominant)
g.35065252C>T
g.35065255C>T
-
-
VCP_000006
not in >180 control chromosomes,
1 more item
PubMed: Nallamilli 2018
,
PubMed: Reddy 2017
,
PubMed: Watts 2004
,
OMIM:var0006
-
rs121909334
Germline, Unknown
no, yes
-
-
-
-
Johan den Dunnen
,
Madhuri Hegde
,
Tom Winder
,
Marc Cruts
-?/.
1
-
c.577-13C>A
r.(=)
p.(=)
-
likely benign
g.35064295G>T
-
VCP(NM_001354928.2):c.442-13C>A
-
VCP_000073
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
+/+
1
6
c.593T>G
r.(?)
p.(Leu198Trp)
-
pathogenic
g.35064266A>C
g.35064269A>C
-
-
VCP_000019
Point mutation in coding region predicting an amino acid substitution
-
-
-
Unknown
yes
-
-
-
-
Marc Cruts
+/., ?/.
2
6
c.648A>G
r.(?)
p.(Ile216Met)
ACMG
VUS
g.35064211T>C
-
-
-
VCP_000078
ACMG PM2, PP3, PP4_mod
PubMed: Cerino 2022
-
-
Germline
-
-
-
-
-
JA Bevilacqua
+/+, +/.
2
6
c.(695C>A), c.695C>A
r.(?)
p.(Ala232Glu)
-
pathogenic
g.35064164G>T
g.35064167G>T
-
-
VCP_000003
not in >180 control chromosomes,
1 more item
PubMed: Watts 2004
,
OMIM:var0003
-
-
Germline, Unknown
yes
-
MfeI-
-
-
Johan den Dunnen
,
Marc Cruts
-?/.
1
-
c.708+16T>G
r.(=)
p.(=)
-
likely benign
g.35064135A>C
g.35064138A>C
VCP(NM_007126.3):c.708+16T>G
-
VCP_000070
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Utrecht
?/.
1
-
c.767G>T
r.(?)
p.(Arg256Leu)
-
VUS
g.35063019C>A
-
-
-
VCP_000077
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
+/+, +/., +?/.
4
7
c.(784A>G), c.784A>G
r.(?)
p.(Thr262Ala)
-
likely pathogenic, pathogenic
g.35063002T>C
g.35063005T>C
-
-
VCP_000018
Point mutation in coding region predicting an amino acid substitution
PubMed: Gonzalez-Quereda 2020
-
rs1554668598
CLASSIFICATION record, Germline, Unknown
no
-
-
-
-
Johan den Dunnen
,
Marc Cruts
,
MobiDetails
+?/., ?/.
2
-
c.785C>G
r.(?)
p.(Thr262Ser)
-
likely pathogenic, VUS
g.35063001G>C
g.35063004G>C
VCP(NM_001354928.2):c.650C>G (p.T217S)
-
VCP_000049
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
,
VKGL-NL_VUmc
-/.
6
-
c.811+3G>A
r.spl?
p.?
-
benign
g.35062972C>T
g.35062975C>T
VCP(NM_001354928.2):c.676+3G>A, VCP(NM_007126.3):c.811+3G>A, VCP(NM_007126.5):c.811+3G>A
-
VCP_000045
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
,
VKGL-NL_Groningen
,
VKGL-NL_Utrecht
,
VKGL-NL_Nijmegen
,
VKGL-NL_VUmc
,
VKGL-NL_AMC
-?/.
1
-
c.832T>C
r.(?)
p.(Leu278=)
-
likely benign
g.35062327A>G
g.35062330A>G
VCP(NM_007126.5):c.832T>C (p.L278=)
-
VCP_000044
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_VUmc
-?/.
1
-
c.982T>C
r.(?)
p.(Leu328=)
-
likely benign
g.35062099A>G
g.35062102A>G
VCP(NM_007126.3):c.982T>C (p.L328=)
-
VCP_000043
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
-/., -?/.
3
-
c.1081+17C>T
r.(=)
p.(=)
-
benign, likely benign
g.35061983G>A
g.35061986G>A
1 more item
-
VCP_000042
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Utrecht
,
VKGL-NL_VUmc
,
VKGL-NL_AMC
-/.
4
-
c.1082-18_1082-8dup
r.(=)
p.(=)
-
benign
g.35061697_35061707dup
g.35061700_35061710dup
1 more item
-
VCP_000063
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
,
VKGL-NL_Groningen
,
VKGL-NL_VUmc
,
VKGL-NL_AMC
-?/.
1
-
c.1082-15_1082-14insATACTGTTTGT
r.(=)
p.(=)
-
likely benign
g.35061707_35061708insGTATACAAACA
g.35061710_35061711insGTATACAAACA
VCP(NM_007126.5):c.1082-15_1082-14insATACTGTTTGT
-
VCP_000064
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_VUmc
-/., -?/.
3
-
c.1082-9G>T
r.(=)
p.(=)
-
benign, likely benign
g.35061695C>A
g.35061698C>A
VCP(NM_001354928.2):c.947-9G>T, VCP(NM_007126.3):c.1082-9G>T
-
VCP_000062
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
,
VKGL-NL_Utrecht
,
VKGL-NL_AMC
-/., -?/.
4
-
c.1092C>T
r.(?)
p.(Asp364=)
-
benign, likely benign
g.35061676G>A
g.35061679G>A
VCP(NM_007126.3):c.1092C>T (p.D364=), VCP(NM_007126.5):c.1092C>T (p.D364=)
-
VCP_000039
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
,
VKGL-NL_Utrecht
,
VKGL-NL_VUmc
,
VKGL-NL_AMC
?/.
1
-
c.1106T>C
r.(?)
p.(Ile369Thr)
ACMG
VUS (!)
g.35061662A>G
-
-
-
VCP_000075
ACMG: PM2_SUP, PP1, PP2, PP3; co-segregation in similar affected brother
-
-
-
Germline
yes
-
-
-
-
Andreas Laner
+/+
1
10
c.(1159A>C)
r.(?)
p.(Asn387His)
-
pathogenic
g.35061609T>G
g.35061612T>G
-
-
VCP_000017
Point mutation in coding region predicting an amino acid substitution
-
-
-
Unknown
no
-
-
-
-
Marc Cruts
-?/.
1
-
c.1179T>C
r.(?)
p.(Asp393=)
-
likely benign
g.35061589A>G
g.35061592A>G
VCP(NM_007126.5):c.1179T>C (p.D393=)
-
VCP_000038
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_VUmc
-?/.
1
-
c.1195-15G>C
r.(=)
p.(=)
-
likely benign
g.35061191C>G
g.35061194C>G
VCP(NM_007126.5):c.1195-15G>C
-
VCP_000069
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_VUmc
+?/., ?/.
3
-
c.1202A>G
r.(?)
p.(Asn401Ser)
-
likely pathogenic, VUS
g.35061169T>C
g.35061172T>C
VCP(NM_001354928.1):c.1067A>G (p.N356S), VCP(NM_007126.5):c.1202A>G (p.N401S)
-
VCP_000037
VKGL data sharing initiative Nederland
PubMed: Gonzalez-Quereda 2020
-
-
CLASSIFICATION record, Germline
-
-
-
-
-
Johan den Dunnen
,
VKGL-NL_VUmc
,
VKGL-NL_AMC
-?/.
1
-
c.1242G>A
r.(?)
p.(Leu414=)
-
likely benign
g.35061129C>T
g.35061132C>T
VCP(NM_007126.5):c.1242G>A (p.L414=)
-
VCP_000061
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_VUmc
-?/.
1
-
c.1264G>A
r.(?)
p.(Ala422Thr)
-
likely benign
g.35061107C>T
g.35061110C>T
VCP(NM_007126.5):c.1264G>A (p.A422T)
-
VCP_000036
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_VUmc
+/+
1
11
c.(1315G>C)
r.(?)
p.(Ala439Pro)
-
pathogenic
g.35061056C>G
g.35061059C>G
-
-
VCP_000016
Point mutation in coding region predicting an amino acid substitution
-
-
-
Unknown
no
-
-
-
-
Marc Cruts
+/+
1
11
c.(1315G>T)
r.(?)
p.(Ala439Ser)
-
pathogenic
g.35061056C>A
g.35061059C>A
-
-
VCP_000015
Point mutation in coding region predicting an amino acid substitution
-
-
-
Unknown
no
-
-
-
-
Marc Cruts
?/.
1
-
c.1318G>A
r.(?)
p.(Glu440Lys)
-
VUS
g.35061053C>T
g.35061056C>T
VCP(NM_001354928.2):c.1183G>A (p.E395K)
-
VCP_000068
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
-/.
4
-
c.1360-14C>G
r.(=)
p.(=)
-
benign
g.35060934G>C
g.35060937G>C
VCP(NM_007126.3):c.1360-14C>G (p.(=), ), VCP(NM_007126.5):c.1360-14C>G
-
VCP_000035
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Leiden
,
VKGL-NL_Utrecht
,
VKGL-NL_VUmc
,
VKGL-NL_AMC
?/.
1
-
c.1456A>G
r.(?)
p.(Lys486Glu)
-
VUS
g.35060824T>C
g.35060827T>C
-
-
VCP_000048
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
+/.
1
12
c.1460G>A
r.(?)
p.(Arg487His)
-
pathogenic
g.35060820C>T
g.35060823C>T
-
-
VCP_000014
-
PubMed: Hirano 2015
,
Journal: Hirano 2015
-
-
Germline
-
-
-
-
-
Jamie Zeegers
-/., -?/.
4
-
c.1584C>T
r.(?)
p.(Ala528=)
-
benign, likely benign
g.35060421G>A
g.35060424G>A
1 more item
-
VCP_000034
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
,
VKGL-NL_Utrecht
,
VKGL-NL_VUmc
,
VKGL-NL_AMC
-/.
6
-
c.1695+8A>G
r.(=)
p.(=)
-
benign
g.35060302T>C
g.35060305T>C
VCP(NM_001354928.2):c.1560+8A>G, VCP(NM_007126.3):c.1695+8A>G, VCP(NM_007126.5):c.1695+8A>G
-
VCP_000033
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
,
VKGL-NL_Groningen
,
VKGL-NL_Utrecht
,
VKGL-NL_Nijmegen
,
VKGL-NL_VUmc
,
VKGL-NL_AMC
?/.
1
-
c.1700G>A
r.(?)
p.(Arg567His)
-
VUS
g.35059794C>T
g.35059797C>T
VCP(NM_007126.5):c.1700G>A (p.R567H)
-
VCP_000032
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_VUmc
-/., -?/.
4
-
c.1704A>G
r.(?)
p.(Gln568=)
-
benign, likely benign
g.35059790T>C
g.35059793T>C
1 more item
-
VCP_000031
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
,
VKGL-NL_Utrecht
,
VKGL-NL_VUmc
,
VKGL-NL_AMC
+/.
1
14
c.1732G>C
r.1732g>c
p.Glu578Gln
-
NA
g.35059762C>G
g.35059765C>G
-
-
VCP_000007
expression cloning no ATPase activity
PubMed: Weihl 2006
-
-
In vitro (cloned)
-
-
-
-
-
Johan den Dunnen
-/.
1
-
c.1847dup
r.(?)
p.(Asn616LysfsTer12)
-
benign
g.35059655dup
g.35059658dup
VCP(NM_007126.5):c.1847dupA (p.N616Kfs*12)
-
VCP_000060
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
-?/.
1
-
c.1887T>C
r.(?)
p.(Ile629=)
-
likely benign
g.35059607A>G
g.35059610A>G
VCP(NM_007126.5):c.1887T>C (p.I629=)
-
VCP_000067
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_VUmc
-?/.
2
-
c.2109C>T
r.(?)
p.(Ile703=)
-
likely benign
g.35059112G>A
g.35059115G>A
VCP(NM_007126.3):c.2109C>T (p.I703=), VCP(NM_007126.5):c.2109C>T (p.I703=)
-
VCP_000059
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
,
VKGL-NL_VUmc
?/.
1
15
c.2121T>G
r.(?)
p.(Ile707Met)
-
VUS
g.35059100A>C
g.35059103A>C
-
-
VCP_000055
-
PubMed: Nallamilli 2018
-
-
Germline
-
-
-
-
-
Madhuri Hegde
-?/.
1
-
c.2132G>A
r.(?)
p.(Arg711Gln)
-
likely benign
g.35059089C>T
g.35059092C>T
VCP(NM_007126.3):c.2132G>A (p.R711Q)
-
VCP_000058
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
-?/.
2
-
c.2160+8T>G
r.(=)
p.(=)
-
likely benign
g.35059053A>C
g.35059056A>C
VCP(NM_007126.3):c.2160+8T>G, VCP(NM_007126.5):c.2160+8T>G
-
VCP_000057
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
,
VKGL-NL_VUmc
-?/.
1
-
c.2161-4A>G
r.spl?
p.?
-
likely benign
g.35057531T>C
-
VCP(NM_001354928.1):c.2026-4A>G
-
VCP_000076
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
?/.
1
-
c.2190G>T
r.(?)
p.(Glu730Asp)
ACMG
VUS
g.35057498C>A
g.35057501C>A
-
-
VCP_000071
-
-
-
rs373800909
Germline
-
-
-
-
-
Andreas Laner
-?/.
1
-
c.2214A>G
r.(?)
p.(Glu738=)
-
likely benign
g.35057474T>C
g.35057477T>C
VCP(NM_007126.5):c.2214A>G (p.E738=)
-
VCP_000056
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_VUmc
?/.
1
-
c.2397C>G
r.(?)
p.(Asp799Glu)
-
VUS
g.35057138G>C
-
VCP(NM_001354928.1):c.2262C>G (p.D754E)
-
VCP_000079
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_VUmc
-?/.
2
-
c.2406T>C
r.(?)
p.(Asp802=)
-
likely benign
g.35057129A>G
g.35057132A>G
VCP(NM_007126.3):c.2406T>C (p.D802=), VCP(NM_007126.5):c.2406T>C (p.D802=)
-
VCP_000030
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
,
VKGL-NL_VUmc
-?/.
2
-
c.*4G>T
r.(=)
p.(=)
-
likely benign
g.35057110C>A
g.35057113C>A
VCP(NM_007126.3):c.*4G>T, VCP(NM_007126.5):c.*4G>T
-
VCP_000029
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Utrecht
,
VKGL-NL_AMC
-/.
1
-
c.*12C>T
r.(=)
p.(=)
-
benign
g.35057102G>A
g.35057105G>A
VCP(NM_007126.5):c.*12C>T
-
VCP_000028
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
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
Powered by
LOVD v.3.0
Build 28d
LOVD software ©2004-2023
Leiden University Medical Center