Iran Variome Retinitis Pigmentosa Database
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All individuals
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.
Lab-ID
: The individual's ID in the hospital, diagnostic laboratory or in the publication.
Reference
: Reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, including link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346". References in the "Country:City" format indicate that the variant was submitted directly to this database by the laboratory indicated.
Remarks
: Remarks about the individual.
Variants in genes
: The individual has variants for this gene.
Panel size
: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.
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.
84 entries on 1 page. Showing entries 1 - 84.
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Legend
How to query
Individual ID
Lab-ID
Reference
Remarks
Disease
Phenotype details
Genes screened
Variants in genes
Variants
Panel size
Owner
00000001
RP-1
-
-
RP (AR)
-
CRX
CRX
1
1
Saeed Reza Ghaffari
00000002
RP-2
-
-
RP (AR)
-
CEP290
CEP290
2
1
variome.ir
00000003
RP-3
-
-
RP (AD)
-
GUCA1A
GUCA1A
1
1
variome.ir
00000004
RP-4
-
-
RP (AD)
-
CRX
CRX
1
1
variome.ir
00000005
RP-5
-
-
RP (AD), RP (AR)
-
OPA1
OPA1
1
1
variome.ir
00000006
RP-6
-
-
RP (AR)
-
BBS2
BBS2
1
1
variome.ir
00000007
RP-70
-
-
RP (AR)
-
PDE6B
-
0
1
variome.ir
00000008
RP-70
-
-
RP (AR)
-
PDE6B
PDE6B
1
1
variome.ir
00000009
RP-70
-
-
RP (AR)
-
PDE6B
-
0
1
variome.ir
00000010
RP-8
-
-
RP (AR)
-
RDH12
RDH12
1
1
variome.ir
00000011
RP-9
-
-
RP (AR)
-
PROM1
PROM1
1
1
variome.ir
00000012
RP-10
-
-
RP (AD)
-
DMPK
-
1
1
variome.ir
00000013
RP-12
-
-
RP (AR)
-
ABCA4
ABCA4
1
1
variome.ir
00000014
RP-13
-
-
RP (AR)
-
ABCA4
ABCA4
1
1
variome.ir
00000015
RP-16
-
-
RP (AR)
-
ABCA4
ABCA4
1
1
variome.ir
00000016
RP-17
-
-
RP (XL)
-
RP2
RP2
1
1
variome.ir
00000017
RP-11
-
-
RP (AR)
-
EYS
EYS
2
1
Saeed Reza Ghaffari
00000018
RP-14
-
-
RP (AR)
-
AIPL1
-
0
1
Saeed Reza Ghaffari
00000020
RP-19
-
-
RP (AR)
-
ABCA4
-
0
1
variome.ir
00000021
RP-20
-
-
RP (AR)
-
AIPL1
AIPL1
1
1
variome.ir
00000022
RP-21
-
-
RP (AR)
-
ALMS1
ALMS1
1
1
variome.ir
00000023
RP-22
-
-
RP (AR)
-
USH2A
USH2A
1
1
variome.ir
00000024
RP-24
-
-
RP (AR)
-
RPGRIP1
RPGRIP1
1
1
variome.ir
00000025
RP-25
-
-
RP (AD)
-
GUCY2D
-
0
1
variome.ir
00000026
RP-26
-
-
RP (AR)
-
CNGB1
CNGB1
1
1
variome.ir
00000027
RP-27
-
-
RP (AR)
-
TULP1
-
0
1
variome.ir
00000028
RP-28
-
-
RP (AR)
-
TULP1
-
0
1
variome.ir
00000029
RP-29
-
-
RP (AR)
-
CRB1
CRB1
1
1
variome.ir
00000030
RP-30
-
-
RP (AR)
-
NR2E3
-
0
1
variome.ir
00000031
RP-31
-
-
RP (AD)
-
BEST1
BEST1
1
1
variome.ir
00000032
RP-32
-
-
RP (AR)
-
IMPDH1
IMPDH1
1
1
variome.ir
00000033
RP-33
-
-
RP (AR)
-
CEP290
CEP290
1
1
variome.ir
00000034
RP-34
-
-
RP (AR)
-
SNRNP200
-
0
1
variome.ir
00000035
RP-35
-
-
RP (AR)
-
PDE6A
-
0
1
variome.ir
00000036
RP-36
-
-
RP (AR)
-
PCDH15
PCDH15
1
1
variome.ir
00000037
RP-37
-
-
RP (AR)
-
RP2
-
0
1
variome.ir
00000039
RP-39
-
-
RP (AR)
-
IMPG2
IMPG2
1
1
variome.ir
00000040
RP-40
-
-
RP (AR)
-
-
-
0
1
variome.ir
00000041
RP-42
-
-
RP (AR)
-
RIMS1
RIMS1
1
1
variome.ir
00000042
RP-43
-
-
RP (AR)
-
PDE6A
-
0
1
variome.ir
00000043
RP-44
-
-
RP (AR)
-
PDE6A
-
0
1
variome.ir
00000044
RP-45
-
-
RP (AR)
-
PANK2
PANK2
1
1
variome.ir
00000045
RP-47
-
-
RP (AR)
-
MYO7A
MYO7A
1
1
variome.ir
00000046
RP-48
-
-
RP (AR)
-
PCARE
-
0
1
variome.ir
00000047
RP-49
-
-
RP (AR)
-
RDH12
RDH12
1
1
variome.ir
00000048
RP-51
-
-
RP (AR)
-
IMPG2
IMPG2
1
1
variome.ir
00000049
RP-52
-
-
RP (AR)
-
MYO7A
MYO7A
1
1
variome.ir
00000050
RP-53
-
-
RP (AR)
-
NR2E3
-
0
1
variome.ir
00000051
RP-54
-
-
RP (AR)
-
PCARE
-
0
1
variome.ir
00000052
RP-55
-
-
RP (AR)
-
RLBP1
RLBP1
1
1
variome.ir
00000054
RP-57
-
-
RP (AR)
-
CNGB1
CNGB1
1
1
variome.ir
00000055
RP-58
-
-
RP (AR)
-
CDH23
CDH23
1
1
variome.ir
00000056
RP-60
-
-
RP (AR)
-
CERKL
CERKL
1
1
variome.ir
00000057
RP-61
-
-
RP (AD)
-
PRPF8
-
0
1
variome.ir
00000058
RP-62
-
-
RP (AR)
-
CNGB1
CNGB1
1
1
variome.ir
00000059
RP-63
-
-
RP (AR)
-
PROM1
PROM1
1
1
variome.ir
00000060
RP-64
-
-
RP (AR)
-
AIPL1
AIPL1
1
1
variome.ir
00000061
RP-65
-
-
RP (AR)
-
EYS
EYS
1
1
variome.ir
00000062
RP-66
-
-
RP (AR)
-
LRAT
-
0
1
variome.ir
00000063
RP-67
-
-
RP (AR)
-
LRAT
-
0
1
variome.ir
00000064
RP-68
-
-
RP (AR)
-
CERKL
CERKL
1
1
variome.ir
00000065
RP-69
-
-
RP (AR)
-
BBS2
BBS2
1
1
variome.ir
00000066
RP-71
-
-
RP (AR)
-
PDE6C
-
0
1
variome.ir
00000067
RP-72
-
-
RP (AR)
-
PRPH2
PRPH2
1
1
variome.ir
00000068
RP-73
-
-
RP (AR)
-
USH2A
USH2A
1
1
variome.ir
00000069
RP-74
-
-
RP (AR)
-
IMPG2
IMPG2
1
1
variome.ir
00000070
RP-75
-
-
RP (AR)
-
RLBP1
RLBP1
1
1
variome.ir
00000071
RP-76
-
-
RP (AR)
-
ARL6
ARL6
1
1
variome.ir
00000072
RP-77
-
-
RP (AR)
-
CNGA3
CNGA3
1
1
variome.ir
00000073
RP-80
-
-
RP (AR)
-
CFAP418
-
0
1
variome.ir
00000074
RP-83
-
-
RP (AD)
-
GUCY2D
-
0
1
variome.ir
00000075
RP-85
-
-
RP (AR)
-
RDH12
RDH12
1
1
variome.ir
00000076
RP-88
-
-
RP (AD)
-
IMPG2
IMPG2
1
1
variome.ir
00000077
RP-89
-
-
RP (AR)
-
PROM1
PROM1
1
1
variome.ir
00000078
RP-92
-
-
RP (AR)
-
BBS12
-
0
1
variome.ir
00000079
RP-94
-
-
RP (AR)
-
PROM1
PROM1
1
1
variome.ir
00000080
RP-95
-
-
RP (XL)
-
RS1
RS1
1
1
variome.ir
00000081
RP-96
-
-
RP (AD)
-
PRPF3
PRPF3
1
1
variome.ir
00000083
RP-98
-
-
RP (AR)
-
EYS
EYS
1
1
variome.ir
00000084
RP-99
-
-
RP (AD)
-
IMPDH1
IMPDH1
1
1
variome.ir
00000087
RP-104
-
-
RP (AR)
-
CRB1
CRB1
1
1
variome.ir
00000088
RP-106
-
-
RP (AD)
-
GUCY2D
-
0
1
variome.ir
00000089
RP-107
-
-
RP (AR)
-
RP1
RP1
1
1
variome.ir
00000090
RP-108
-
-
RP (AR)
-
BBS12
-
0
1
variome.ir
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