How to query this table
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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.
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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.
|
How to query |
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ID
|
Chr
|
Gene ID
|
Name
|
NCBI ID
|
NCBI Protein ID
|
Variants
|
00000007 |
1 |
ABCA4 |
ATP-binding cassette, sub-family A (ABC1), member 4 |
NM_000350.2 |
NP_000341.2 |
3 |
00000008 |
16 |
ABCC6 |
ATP-binding cassette, sub-family C (CFTR/MRP), member 6, transcript variant 2 |
NM_001079528.3 |
NP_001072996.1 |
0 |
00000009 |
16 |
ABCC6 |
ATP-binding cassette, sub-family C (CFTR/MRP), member 6, transcript variant 1 |
NM_001171.5 |
NP_001162.4 |
0 |
00000010 |
16 |
ABCC6 |
ATP-binding cassette, sub-family C (CFTR/MRP), member 6, transcript variant X1 |
XM_005255310.1 |
- |
0 |
00000011 |
16 |
ABCC6 |
ATP-binding cassette, sub-family C (CFTR/MRP), member 6, transcript variant X2 |
XM_005255311.1 |
XP_005255368.1 |
0 |
00000012 |
4 |
ADGRA3 |
mRNA |
NM_145290.3 |
NP_660333.2 |
0 |
00000013 |
4 |
ADGRA3 |
mRNA |
NM_145290.4 |
NP_660333.2 |
0 |
00000026 |
5 |
ADGRV1 |
transcript variant 1 |
NM_032119.3 |
NP_115495.3 |
0 |
00000027 |
5 |
ADGRV1 |
transcript variant 1 |
NM_032119.4 |
NP_115495.3 |
0 |
00000028 |
6 |
AHI1 |
transcript variant 1 |
NM_001134831.1 |
NP_001128303.1 |
0 |
00000029 |
6 |
AHI1 |
transcript variant 2 |
NM_017651.4 |
NP_060121.3 |
0 |
00000030 |
6 |
AHI1 |
transcript variant 3 |
NM_001134830.1 |
NP_001128302.1 |
0 |
00000031 |
6 |
AHI1 |
transcript variant 4 |
NM_001134832.1 |
NP_001128304.1 |
0 |
00000032 |
17 |
AIPL1 |
aryl hydrocarbon receptor interacting protein-like 1, transcript variant 2 |
NM_001033054.1 |
NP_001028226.1 |
1 |
00000033 |
17 |
AIPL1 |
aryl hydrocarbon receptor interacting protein-like 1, transcript variant 3 |
NM_001033055.1 |
NP_001028227.1 |
0 |
00000034 |
17 |
AIPL1 |
aryl hydrocarbon receptor interacting protein-like 1, transcript variant 1 |
NM_014336.3 |
NP_055151.3 |
1 |
00000268 |
17 |
AIPL1 |
aryl hydrocarbon receptor interacting protein-like 1, transcript variant X1 |
XM_005256583.1 |
XP_005256640.1 |
0 |
00000269 |
17 |
AIPL1 |
aryl hydrocarbon receptor interacting protein-like 1, transcript variant X2 |
XM_005256584.1 |
XP_005256641.1 |
0 |
00000270 |
17 |
AIPL1 |
aryl hydrocarbon receptor interacting protein-like 1, transcript variant X3 |
XM_005256585.1 |
XP_005256642.1 |
0 |
00000271 |
17 |
AIPL1 |
aryl hydrocarbon receptor interacting protein-like 1, transcript variant X4 |
XM_005256586.1 |
XP_005256643.1 |
0 |
00000272 |
17 |
AIPL1 |
aryl hydrocarbon receptor interacting protein-like 1, transcript variant X5 |
XM_005256587.1 |
XP_005256644.1 |
0 |
00000035 |
2 |
ALMS1 |
Alstrom syndrome 1 |
NM_015120.4 |
NP_055935.4 |
1 |
00000036 |
3 |
ARL6 |
ADP-ribosylation factor-like 6, transcript variant 3 |
NM_001278293.1 |
NP_001265222.1 |
0 |
00000037 |
3 |
ARL6 |
ADP-ribosylation factor-like 6, transcript variant 1 |
NM_032146.4 |
NP_115522.1 |
1 |
00000038 |
3 |
ARL6 |
ADP-ribosylation factor-like 6, transcript variant 2 |
NM_177976.2 |
NP_816931.1 |
0 |
00000039 |
11 |
BBS1 |
Bardet-Biedl syndrome 1 |
NM_024649.4 |
NP_078925.3 |
0 |
00000025 |
16 |
BBS2 |
Bardet-Biedl syndrome 2 |
NM_031885.3 |
NP_114091.3 |
2 |
00000040 |
15 |
BBS4 |
transcript variant 1 |
NM_033028.4 |
NP_149017.2 |
0 |
00000041 |
15 |
BBS4 |
transcript variant 2 |
NM_001252678.1 |
NP_001239607.1 |
0 |
00000042 |
2 |
BBS5 |
Bardet-Biedl syndrome 5 |
NM_152384.2 |
NP_689597.1 |
0 |
00000043 |
2 |
BBS5 |
transcript variant X1 |
XM_005246288.1 |
XP_005246345.1 |
0 |
00000044 |
2 |
BBS5 |
transcript variant X2 |
XM_005246289.1 |
XP_005246346.1 |
0 |
00000045 |
4 |
BBS7 |
transcript variant 1 |
NM_176824.2 |
NP_789794.1 |
0 |
00000046 |
4 |
BBS7 |
transcript variant 2 |
NM_018190.3 |
NP_060660.2 |
0 |
00000047 |
4 |
BBS7 |
transcript variant X1 |
XM_005263106.1 |
XP_005263163.1 |
0 |
00000048 |
7 |
BBS9 |
transcript variant 1 |
NM_014451.3 |
NP_055266.2 |
0 |
00000049 |
7 |
BBS9 |
transcript variant 2 |
NM_198428.2 |
NP_940820.1 |
0 |
00000050 |
7 |
BBS9 |
transcript variant 3 |
NM_001033604.1 |
NP_001028776.1 |
0 |
00000051 |
7 |
BBS9 |
transcript variant 4 |
NM_001033605.1 |
NP_001028777.1 |
0 |
00000052 |
11 |
BEST1 |
transcript variant 1 |
NM_004183.3 |
NP_004174.1 |
1 |
00000053 |
11 |
BEST1 |
transcript variant 2 |
NM_001139443.1 |
NP_001132915.1 |
0 |
00000066 |
10 |
CDH23 |
cadherin-related 23, transcript variant 1 |
NM_022124.5 |
NP_071407.4 |
1 |
00000067 |
10 |
CDH23 |
cadherin-related 23, transcript variant 2 |
NM_052836.3 |
NP_443068.1 |
0 |
00000068 |
10 |
CDH23 |
cadherin-related 23, transcript variant 3 |
NM_001171930.1 |
NP_001165401.1 |
0 |
00000069 |
10 |
CDH23 |
cadherin-related 23, transcript variant 4 |
NM_001171931.1 |
NP_001165402.1 |
0 |
00000070 |
10 |
CDH23 |
cadherin-related 23, transcript variant 5 |
NM_001171932.1 |
NP_001165403.1 |
0 |
00000071 |
10 |
CDH23 |
cadherin-related 23, transcript variant 6 |
NM_001171933.1 |
NP_001165404.1 |
0 |
00000072 |
10 |
CDH23 |
cadherin-related 23, transcript variant 7 |
NM_001171934.1 |
NP_001165405.1 |
0 |
00000073 |
10 |
CDH23 |
cadherin-related 23, transcript variant 8 |
NM_001171935.1 |
NP_001165406.1 |
0 |
00000074 |
10 |
CDH23 |
cadherin-related 23, transcript variant 9 |
NM_001171936.1 |
NP_001165407.1 |
0 |
00000075 |
10 |
CDHR1 |
cadherin-related family member 1, transcript variant 2 |
NM_001171971.2 |
NP_001165442.1 |
0 |
00000076 |
10 |
CDHR1 |
cadherin-related family member 1, transcript variant 1 |
NM_033100.3 |
NP_149091.1 |
0 |
00000020 |
12 |
CEP290 |
centrosomal protein 290kDa |
NM_025114.3 |
NP_079390.3 |
3 |
00000077 |
2 |
CERKL |
ceramide kinase-like, transcript variant 7 |
NM_001160277.1 |
NP_001153749.1 |
2 |
00000054 |
21 |
CFAP410 |
transcript variant 1 |
NM_004928.2 |
NP_004919.1 |
0 |
00000055 |
21 |
CFAP410 |
transcript variant 1, mRNA; nuclear gene for mitochondrial product |
NM_004928.3 |
NP_004919.1 |
0 |
00000056 |
21 |
CFAP410 |
transcript variant 2 |
NM_001271440.1 |
NP_001258369.1 |
0 |
00000057 |
21 |
CFAP410 |
transcript variant 2, mRNA; nuclear gene for mitochondrial product |
NM_001271440.2 |
NP_001258369.1 |
0 |
00000058 |
21 |
CFAP410 |
transcript variant 3 |
NM_001271441.1 |
NP_001258370.1 |
0 |
00000059 |
21 |
CFAP410 |
transcript variant 3, mRNA; nuclear gene for mitochondrial product |
NM_001271441.2 |
NP_001258370.1 |
0 |
00000060 |
21 |
CFAP410 |
transcript variant 4 |
NM_001271442.1 |
NP_001258371.1 |
0 |
00000063 |
8 |
CFAP418 |
chromosome 8 open reading frame 37 (C8orf37), transcript variant 1 |
NM_177965.3 |
NP_808880.1 |
0 |
00000064 |
8 |
CFAP418 |
transcript variant 1 |
NM_177965.4 |
NP_808880.1 |
0 |
00000065 |
8 |
CFAP418 |
transcript variant 2 |
NM_001363260.1 |
NP_001350189.1 |
0 |
00000078 |
X |
CHM |
choroideremia (Rab escort protein 1), transcript variant 1 |
NM_000390.2 |
NP_000381.1 |
0 |
00000079 |
16 |
CLN3 |
ceroid-lipofuscinosis, neuronal 3, transcript variant 2 |
NM_000086.2 |
NP_000077.1 |
0 |
00000080 |
16 |
CLN3 |
ceroid-lipofuscinosis, neuronal 3, transcript variant 1 |
NM_001042432.1 |
NP_001035897.1 |
0 |
00000081 |
16 |
CLN3 |
ceroid-lipofuscinosis, neuronal 3, transcript variant X1 |
XM_005255087.1 |
- |
0 |
00000082 |
16 |
CLN3 |
ceroid-lipofuscinosis, neuronal 3, transcript variant X2 |
XM_005255088.1 |
- |
0 |
00000083 |
16 |
CLN3 |
ceroid-lipofuscinosis, neuronal 3, transcript variant X3 |
XM_005255089.1 |
XP_005255146.1 |
0 |
00000084 |
3 |
CLRN1 |
transcript variant 1 |
NM_174878.2 |
NP_777367.1 |
0 |
00000085 |
4 |
CNGA1 |
cyclic nucleotide gated channel alpha 1, transcript variant 2 |
NM_000087.3 |
NP_000078.2 |
0 |
00000086 |
4 |
CNGA1 |
cyclic nucleotide gated channel alpha 1, transcript variant 1 |
NM_001142564.1 |
NP_001136036.1 |
0 |
00000087 |
4 |
CNGA1 |
cyclic nucleotide gated channel alpha 1, transcript variant X1 |
XM_005248049.1 |
XP_005248106.1 |
0 |
00000088 |
4 |
CNGA1 |
cyclic nucleotide gated channel alpha 1, transcript variant X2 |
XM_005248050.1 |
XP_005248107.1 |
0 |
00000089 |
2 |
CNGA3 |
cyclic nucleotide gated channel alpha 3, transcript variant 2 |
NM_001079878.1 |
NP_001073347.1 |
0 |
00000090 |
2 |
CNGA3 |
cyclic nucleotide gated channel alpha 3, transcript variant 1 |
NM_001298.2 |
NP_001289.1 |
1 |
00000091 |
16 |
CNGB1 |
cyclic nucleotide gated channel beta 1, transcript variant 2 |
NM_001135639.1 |
NP_001129111.1 |
0 |
00000092 |
16 |
CNGB1 |
cyclic nucleotide gated channel beta 1, transcript variant 1 |
NM_001297.4 |
NP_001288.3 |
3 |
00000093 |
2 |
CNNM4 |
cyclin M4 |
NM_020184.3 |
NP_064569.3 |
0 |
00000094 |
1 |
COL11A1 |
collagen, type XI, alpha 1, transcript variant A |
NM_001854.3 |
NP_001845.3 |
0 |
00000095 |
1 |
COL11A1 |
collagen, type XI, alpha 1, transcript variant B |
NM_080629.2 |
NP_542196.2 |
0 |
00000096 |
1 |
COL11A1 |
collagen, type XI, alpha 1, transcript variant C |
NM_080630.3 |
NP_542197.3 |
0 |
00000097 |
1 |
COL11A1 |
collagen, type XI, alpha 1, transcript variant E |
NM_001190709.1 |
NP_001177638.1 |
0 |
00000098 |
1 |
CRB1 |
crumbs homolog 1 (Drosophila), transcript variant 2 |
NM_001193640.1 |
NP_001180569.1 |
0 |
00000099 |
1 |
CRB1 |
crumbs homolog 1 (Drosophila), transcript variant 3 |
NM_001257965.1 |
NP_001244894.1 |
2 |
00000100 |
1 |
CRB1 |
crumbs homolog 1 (Drosophila), transcript variant 4 |
NM_001257966.1 |
NP_001244895.1 |
0 |
00000101 |
1 |
CRB1 |
crumbs homolog 1 (Drosophila), transcript variant 1 |
NM_201253.2 |
NP_957705.1 |
0 |
00000014 |
19 |
CRX |
cone-rod homeobox |
NM_000554.4 |
NP_000545.1 |
2 |
00000015 |
19 |
CRX |
transcript variant X1 |
XR_243896.1 |
- |
0 |
00000016 |
19 |
CRX |
transcript variant X2 |
XR_243897.1 |
- |
0 |
00000102 |
4 |
CYP4V2 |
cytochrome P450, family 4, subfamily V, polypeptide 2 |
NM_207352.3 |
NP_997235.3 |
0 |
00000103 |
4 |
CYP4V2 |
cytochrome P450, family 4, subfamily V, polypeptide 2, transcript variant X1 |
XM_005262935.1 |
XP_005262992.1 |
0 |
00000104 |
19 |
DMPK |
dystrophia myotonica-protein kinase, transcript variant 3 |
NM_001081560.1 |
NP_001075029.1 |
0 |
00000105 |
19 |
DMPK |
dystrophia myotonica-protein kinase, transcript variant 4 |
NM_001081562.1 |
NP_001075031.1 |
0 |
00000106 |
19 |
DMPK |
dystrophia myotonica-protein kinase, transcript variant 1 |
NM_001081563.1 |
NP_001075032.1 |
0 |
00000107 |
19 |
DMPK |
dystrophia myotonica-protein kinase, transcript variant 2 |
NM_004409.3 |
NP_004400.4 |
0 |
00000108 |
19 |
DMPK |
dystrophia myotonica-protein kinase, transcript variant X1 |
XM_005258605.1 |
XP_005258662.1 |
0 |
00000109 |
19 |
DMPK |
dystrophia myotonica-protein kinase, transcript variant X2 |
XM_005258606.1 |
XP_005258663.1 |
0 |
00000110 |
19 |
DMPK |
dystrophia myotonica-protein kinase, transcript variant X3 |
XM_005258607.1 |
XP_005258664.1 |
0 |
|
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