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.
22 entries on 1 page. Showing entries 1 - 22.
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How to query
Symbol
HGNC ID
Gene
Chr
Band
Transcripts
Variants
Unique variants
Last updated
Associated with diseases
ATP13A2
HGNC:30213
ATPase type 13A2
1
p36
1
157
104
2025-02-07
KRS;CLN12;PARK9, SPG78
CHCHD2
HGNC:21645
coiled-coil-helix-coiled-coil-helix domain containing 2
7
p11.2
1
5
5
2024-08-28
PARK22
DNAJC13
HGNC:30343
DnaJ (Hsp40) homolog, subfamily C, member 13
3
q22.1
1
100
80
2025-02-07
PARK21
DNAJC6
HGNC:15469
DnaJ (Hsp40) homolog, subfamily C, member 6
1
p31.3
1
58
47
2025-02-07
PARK19
EIF4G1
HGNC:3296
eukaryotic translation initiation factor 4 gamma, 1
3
q27-qter
1
154
121
2024-08-28
PARK18
FBXO7
HGNC:13586
F-box protein 7
22
q11.2-qter
1
52
38
2023-01-11
PARK15
GIGYF2
HGNC:11960
GRB10 interacting GYF protein 2
2
q37.1
1
78
62
2025-02-07
PARK11
HTRA2
HGNC:14348
HtrA serine peptidase 2
2
p13.1
1
34
27
2024-04-19
MGCA8, PARK13
LRRK2
HGNC:18618
leucine-rich repeat kinase 2
12
q12
1
989
802
2025-02-07
PARK8
MAPT
HGNC:6893
microtubule-associated protein tau
17
q21
2
344
163
2025-02-07
FTD, PD, Picks, PSNP1, Parkinson-dementia syndrome
NOTCH2NL
HGNC:31862
notch 2 N-terminal like
1
q21.2
1
3
3
2023-01-11
PARK
PARK2
HGNC:8607
parkinson protein 2, E3 ubiquitin protein ligase (parkin)
6
q25.2-q27
1
264
170
2025-02-07
cancer, lung, cancer, ovarian, LPRS2, PARK2
PARK7
HGNC:16369
parkinson protein 7
1
p36.23
1
58
39
2023-01-11
PARK7
PINK1
HGNC:14581
PTEN induced putative kinase 1
1
p36.12
1
159
110
2023-11-27
PARK6
PLA2G6
HGNC:9039
phospholipase A2, group VI (cytosolic, calcium-independent)
22
q13.1
1
293
212
2025-03-10
ID, NBIA2A, NBIA2B, PARK14
PRKAG2
HGNC:9386
protein kinase, AMP-activated, gamma 2 non-catalytic subunit
7
q35-q36
1
363
238
2025-02-07
CMH6, storage disease, glycogen, type of heart, lethal congenital, Wolff-Parkinson-White pattern
SNCA
HGNC:11138
synuclein, alpha (non A4 component of amyloid precursor)
4
q21.3-q22
1
31
15
2024-04-19
DLB, PARK1, PARK4
SYNJ1
HGNC:11503
synaptojanin 1
21
q22.2
1
105
80
2024-08-28
EIEE53, PARK20
TRPM7
HGNC:17994
transient receptor potential cation channel, subfamily M, member 7
15
q21
1
12
11
2024-08-28
sclerosis, lateral, amyotrophic/Parkinsonism/dementia complex 1
UCHL1
HGNC:12513
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
4
p13
1
25
23
2025-01-31
NDGOA, PARK5
VPS13C
HGNC:23594
vacuolar protein sorting 13 homolog C (S. cerevisiae)
15
q21.3
1
151
149
2024-08-28
PARK23
VPS35
HGNC:13487
vacuolar protein sorting 35 homolog (S. cerevisiae)
16
q12
1
32
22
2024-08-28
PARK17
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