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.
20 entries on 1 page. Showing entries 1 - 20.
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How to query
Symbol
HGNC ID
Gene
Chr
Band
Transcripts
Variants
Unique variants
Last updated
Associated with diseases
ADAMTS2
HGNC:218
ADAM metallopeptidase with thrombospondin type 1 motif, 2
5
q35.3
1
115
94
2025-02-07
EDS, EDSDERMS
AEBP1
HGNC:303
AE binding protein 1
7
p13
1
53
46
2025-02-27
EDSCLL2
B3GALT6
HGNC:17978
beta-1,3-galactosyltransferase 6
1
p36.33
1
108
67
2025-02-07
ALGAZ, EDSSPD2, SEMDJL1
B4GALT7
HGNC:930
beta-1,4-galactosyltransferase 7
5
q35.3
1
91
48
2024-08-28
EDS, EDSSPD, EDSSPD1, ID, LRS
C1R
HGNC:1246
complement component 1, r subcomponent
12
p13.31
1
61
47
2025-02-07
C1SD, EDSPD1
C1S
HGNC:1247
complement component 1, s subcomponent
12
p13
1
51
35
2024-10-29
C1SD, EDSPD2
CHST14
HGNC:24464
carbohydrate sulfotransferase 14
15
q15.1
1
57
37
2024-12-10
EDSMC, EDSMC1
COL12A1
HGNC:2188
collagen, type XII, alpha 1
6
q12-q13
1
236
192
2025-02-07
BTHLM, BTHLM2, UCMD2
COL1A1
HGNC:2197
collagen type I alpha 1 chain
17
q21.33
1
4603
1617
2025-02-07
CAFYD, EDS, EDS7A, EDSARTH2, OI, OI1, OI2, OI3, OI4, osteoporosis
COL1A2
HGNC:2198
collagen type I alpha 2 chain
7
q21.3
1
1803
930
2025-02-07
EDS, EDSARTH2, EDSCV, OI, OI2, OI3, OI4, osteoporosis
COL3A1
HGNC:2201
collagen type III alpha 1 chain
2
q32.2
1
1796
1040
2025-02-27
acrogeria, EDS, EDSVASC, IS1, PMGEDSV, SCAD
COL5A1
HGNC:2209
collagen type V alpha 1 chain
9
q34.3
2
958
693
2025-02-07
EDS, EDSCL1
COL5A2
HGNC:2210
collagen type V alpha 2 chain
2
q32.2
1
303
227
2025-04-22
EDS, EDSCL2
DSE
HGNC:21144
dermatan sulfate epimerase
6
q22.1
1
46
34
2024-04-19
EDSMC, EDSMC2
FKBP14
HGNC:18625
FKBP prolyl isomerase 14
7
p14.3
1
62
18
2025-02-07
EDS, EDSKSCL2
PLOD1
HGNC:9081
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
1
p36.22
1
296
180
2025-02-07
EDS, EDSKSCL1
PRDM5
HGNC:9349
PR domain containing 5
4
q25-q26
1
56
41
2024-05-26
BCS, BCS2, EDS
SLC39A13
HGNC:20859
solute carrier family 39 (zinc transporter), member 13
11
p11.2
1
30
23
2025-02-07
EDS, EDSSPD3
TNXB
HGNC:11976
tenascin XB
6
p21.33-p21.32
1
713
508
2025-02-07
EDS, EDSCLL, EDSHMB, VUR8
ZNF469
HGNC:23216
zinc finger protein 469
16
q24
1
89
84
2025-02-07
BCS, BCS1
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