Global Variome shared LOVD
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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.
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.
17 entries on 1 page. Showing entries 1 - 17.
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How to query
Symbol
Gene
Chr
Band
Transcripts
Variants
Unique variants
Last updated
Associated with diseases
PEX1
peroxisomal biogenesis factor 1
7
q21.2
1
912
247
2023-01-11
HMLR1, ID, PBD1A, PBD1B
PEX10
peroxisomal biogenesis factor 10
1
p36.32
1
93
61
2023-01-11
ID, PBD6A, PBD6B
PEX11A
peroxisomal biogenesis factor 11 alpha
15
q
1
5
3
2020-07-07
-
PEX11B
peroxisomal biogenesis factor 11 beta
1
q21
1
12
11
2023-01-11
ID, PBD14B;PEX14B
PEX11G
peroxisomal biogenesis factor 11 gamma
19
p13.2
1
1
1
2020-07-15
-
PEX12
peroxisomal biogenesis factor 12
17
q21.1
1
78
40
2022-05-09
PBD3A, PDB3B
PEX13
peroxisomal biogenesis factor 13
2
p16.1
1
17
16
2021-12-15
ID, PBD11A, PBD11B
PEX14
peroxisomal biogenesis factor 14
1
p36.22
1
23
22
2022-05-09
PBD13A
PEX16
peroxisomal biogenesis factor 16
11
p
2
43
33
2023-01-11
PBD8A, PBD8B
PEX19
peroxisomal biogenesis factor 19
1
q22
1
38
32
2023-01-11
PBD12A
PEX2
peroxisomal biogenesis factor 2
8
q21.11
1
62
42
2023-01-11
PBD5A, PBD5B
PEX26
peroxisomal biogenesis factor 26
22
q11.21
1
76
46
2022-11-01
ID, PBD7A, PBD7B
PEX3
peroxisomal biogenesis factor 3
6
q24.2
1
19
19
2023-01-11
PBD10A, PBD10B
PEX5
peroxisomal biogenesis factor 5
12
p
1
50
41
2023-01-11
ID, PBD2A, PBD2B, RCDP5
PEX5L
peroxisomal biogenesis factor 5-like
3
q27.1
1
-
-
N/A
-
PEX6
peroxisomal biogenesis factor 6
6
p22-p11
1
297
193
2023-01-25
HMLR2, PBD4A, PBD4B
PEX7
peroxisomal biogenesis factor 7
6
q21-q22.2
1
282
91
2023-01-11
ID, PBD9B, RCDP1, Refsum
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Build 28d
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Leiden University Medical Center