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.
|
How to query |
« First |
Prev |
|
1 |
2 |
|
Next |
Last » |
ID
|
Chr
|
Gene ID
|
Name
|
NCBI ID
|
NCBI Protein ID
|
Variants
|
00000052 |
11 |
ABCC8 |
ATP-binding cassette, sub-family C (CFTR/MRP), member 8 |
NM_000352.3 |
NP_000343.2 |
3 |
00000110 |
12 |
ABCC9 |
ATP-binding cassette, sub-family C (CFTR/MRP), member 9, transcript variant SUR2B |
NM_020297.2 |
NP_064693.2 |
1 |
00000087 |
22 |
ADA2 |
transcript variant 3 |
NM_001282225.2 |
NP_001269154.1 |
4 |
00000114 |
7 |
AEBP1 |
AE binding protein 1 |
NM_001129.4 |
NP_001120.3 |
1 |
00000035 |
11 |
AIP |
aryl hydrocarbon receptor interacting protein |
NM_003977.2 |
NP_003968.2 |
7 |
00000080 |
5 |
APC |
adenomatous polyposis coli, transcript variant 3 |
NM_000038.5 |
NP_000029.2 |
3 |
00000072 |
2 |
APOB |
apolipoprotein B |
NM_000384.2 |
NP_000375.2 |
5 |
00000065 |
3 |
APPL1 |
adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 |
NM_012096.2 |
NP_036228.1 |
4 |
00000036 |
11 |
ATM |
ataxia telangiectasia mutated |
NM_000051.3 |
NP_000042.3 |
15 |
00000020 |
13 |
ATP7B |
ATPase, Cu++ transporting, beta polypeptide, transcript variant 1 |
NM_000053.3 |
NP_000044.2 |
17 |
00000022 |
14 |
ATXN3 |
transcript variant reference |
NM_004993.5 |
NP_004984.2 |
- |
00000051 |
3 |
BAP1 |
BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) |
NM_004656.3 |
NP_004647.1 |
1 |
00000081 |
2 |
BARD1 |
BRCA1 associated RING domain 1 |
NM_000465.2 |
NP_000456.2 |
1 |
00000049 |
8 |
BLK |
B lymphoid tyrosine kinase |
NM_001715.2 |
NP_001706.2 |
1 |
00000082 |
7 |
BRAF |
v-raf murine sarcoma viral oncogene homolog B |
NM_004333.4 |
NP_004324.2 |
1 |
00000003 |
17 |
BRCA1 |
breast cancer 1, early onset, transcript variant 1 |
NM_007294.3 |
NP_009225.1 |
26 |
00000002 |
13 |
BRCA2 |
breast cancer 2, early onset |
NM_000059.3 |
NP_000050.2 |
40 |
00000040 |
17 |
BRIP1 |
BRCA1 interacting protein C-terminal helicase 1 |
NM_032043.2 |
NP_114432.2 |
10 |
00000045 |
16 |
CDH1 |
type 1, E-cadherin (epithelial) |
NM_004360.3 |
NP_004351.1 |
10 |
00000083 |
12 |
CDK4 |
cyclin-dependent kinase 4 |
NM_000075.3 |
NP_000066.1 |
1 |
00000084 |
9 |
CDKN2A |
cyclin-dependent kinase inhibitor 2A, transcript variant 1 |
NM_000077.4 |
NP_000068.1 |
1 |
00000085 |
9 |
CDKN2A |
cyclin-dependent kinase inhibitor 2A, transcript variant 4 |
NM_058195.3 |
NP_478102.2 |
1 |
00000056 |
9 |
CEL |
carboxyl ester lipase |
NM_001807.4 |
NP_001798.2 |
1 |
00000005 |
7 |
CFTR |
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) |
NM_000492.3 |
NP_000483.3 |
7 |
00000008 |
22 |
CHEK2 |
transcript variant 1 |
NM_007194.3 |
NP_009125.1 |
16 |
00000088 |
2 |
COL3A1 |
collagen, type III, alpha 1 |
NM_000090.3 |
NP_000081.1 |
1 |
00000060 |
2 |
COL5A2 |
collagen, type V, alpha 2 |
NM_000393.3 |
NP_000384.2 |
1 |
00000039 |
7 |
CPA1 |
carboxypeptidase A1 (pancreatic) |
NM_001868.2 |
NP_001859.1 |
2 |
00000025 |
6 |
CYP21A2 |
cytochrome P450, family 21, subfamily A, polypeptide 2, transcript variant 1 |
NM_000500.7 |
NP_000491.4 |
- |
00000089 |
2 |
DES |
desmin |
NM_001927.3 |
NP_001918.3 |
1 |
00000090 |
2 |
DIS3L2 |
DIS3 mitotic control homolog (S. cerevisiae)-like 2, transcript variant 1 |
NM_152383.4 |
NP_689596.4 |
1 |
00000091 |
18 |
DSG2 |
desmoglein 2 |
NM_001943.3 |
NP_001934.2 |
2 |
00000037 |
2 |
ERCC3 |
excision repair cross-complementing rodent repair deficiency, complementation group 3 |
NM_000122.1 |
NP_000113.1 |
2 |
00000092 |
6 |
EYA4 |
eyes absent homolog 4 (Drosophila), transcript variant 1 |
NM_004100.4 |
NP_004091.3 |
1 |
00000053 |
16 |
FANCA |
Fanconi anemia, complementation group A, transcript variant 1 |
NM_000135.2 |
NP_000126.2 |
1 |
00000041 |
14 |
FANCM |
Fanconi anemia, complementation group M |
NM_020937.2 |
NP_065988.1 |
1 |
00000059 |
15 |
FBN1 |
fibrillin 1 |
NM_000138.4 |
NP_000129.3 |
7 |
00000028 |
4 |
FGFR3 |
transcript variant 1 |
NM_000142.4 |
NP_000133.1 |
- |
00000112 |
1 |
FH |
fumarate hydratase |
NM_000143.3 |
NP_000134.2 |
1 |
00000029 |
7 |
GCK |
glucokinase (hexokinase 4), transcript variant 1 |
NM_000162.3 |
NP_000153.1 |
10 |
00000026 |
13 |
GJB2 |
gap junction protein, beta 2, 26kDa |
NM_004004.5 |
NP_003995.2 |
- |
00000024 |
X |
GLA |
galactosidase, alpha |
NM_000169.2 |
NP_000160.1 |
- |
00000030 |
16 |
HBA1 |
hemoglobin, alpha 1 |
NM_000558.3 |
NP_000549.1 |
- |
00000031 |
16 |
HBA2 |
hemoglobin, alpha 2 |
NM_000517.4 |
NP_000508.1 |
2 |
00000027 |
11 |
HBB |
hemoglobin, beta |
NM_000518.4 |
NP_000509.1 |
- |
00000014 |
12 |
HNF1A |
HNF1 homeobox A |
NM_000545.5 |
NP_000536.5 |
6 |
00000015 |
17 |
HNF1B |
transcript variant 1 |
NM_000458.2 |
NP_000449.1 |
1 |
00000004 |
20 |
HNF4A |
hepatocyte nuclear factor 4, alpha, transcript variant 4 |
NM_175914.4 |
NP_787110.2 |
2 |
00000093 |
2 |
IL36RN |
transcript variant 2 |
NM_173170.1 |
NP_775262.1 |
2 |
00000094 |
11 |
INS |
transcript variant 1 |
NM_000207.2 |
NP_000198.1 |
1 |
00000095 |
21 |
KCNE1 |
potassium voltage-gated channel, Isk-related family, member 1, transcript variant 2 |
NM_000219.4 |
NP_000210.2 |
1 |
00000096 |
7 |
KCNH2 |
potassium voltage-gated channel, subfamily H (eag-related), member 2, transcript variant 1 |
NM_000238.3 |
NP_000229.1 |
2 |
00000097 |
11 |
KCNJ5 |
potassium inwardly-rectifying channel, subfamily J, member 5 |
NM_000890.3 |
NP_000881.3 |
1 |
00000078 |
11 |
KCNQ1 |
potassium voltage-gated channel, KQT-like subfamily, member 1, transcript variant 1 |
NM_000218.2 |
NP_000209.2 |
1 |
00000099 |
1 |
KIF1B |
transcript variant 1 |
NM_015074.3 |
NP_055889.2 |
1 |
00000100 |
4 |
KIT |
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog, transcript variant 1 |
NM_000222.2 |
NP_000213.1 |
1 |
00000069 |
2 |
KLF11 |
Kruppel-like factor 11, transcript variant 1 |
NM_003597.4 |
NP_003588.1 |
4 |
00000054 |
12 |
KRAS |
Kirsten rat sarcoma viral oncogene homolog, transcript variant b |
NM_004985.3 |
NP_004976.2 |
2 |
00000055 |
12 |
KRAS |
Kirsten rat sarcoma viral oncogene homolog, transcript variant a |
NM_033360.2 |
NP_203524.1 |
2 |
00000073 |
19 |
LDLR |
transcript variant 1 |
NM_000527.4 |
NP_000518.1 |
3 |
00000058 |
18 |
LPIN2 |
lipin 2 |
NM_014646.2 |
NP_055461.1 |
4 |
00000018 |
X |
MECP2 |
methyl CpG binding protein 2 (Rett syndrome), transcript variant 1 |
NM_004992.3 |
NP_004983.1 |
- |
00000023 |
16 |
MEFV |
transcript variant 1 |
NM_000243.2 |
NP_000234.1 |
- |
00000044 |
7 |
MET |
met proto-oncogene, transcript variant 1 |
NM_001127500.1 |
NP_001120972.1 |
7 |
00000010 |
3 |
MLH1 |
colon cancer, nonpolyposis type 2 (E. coli), transcript variant 1 |
NM_000249.3 |
NP_000240.1 |
24 |
00000011 |
2 |
MSH2 |
colon cancer, nonpolyposis type 1 (E. coli), transcript variant 1 |
NM_000251.2 |
NP_000242.1 |
8 |
00000013 |
2 |
MSH6 |
mutS homolog 6 (E. coli), transcript variant 1 |
NM_000179.2 |
NP_000170.1 |
12 |
00000050 |
1 |
MUTYH |
mutY homolog (E. coli), transcript variant alpha5 |
NM_001128425.1 |
NP_001121897.1 |
3 |
00000077 |
11 |
MYBPC3 |
myosin binding protein C, cardiac |
NM_000256.3 |
NP_000247.2 |
1 |
00000101 |
8 |
NBN |
nibrin |
NM_002485.4 |
NP_002476.2 |
5 |
00000047 |
2 |
NEUROD1 |
neuronal differentiation 1 |
NM_002500.4 |
NP_002491.2 |
2 |
00000042 |
17 |
NF1 |
transcript variant 2 |
NM_000267.3 |
NP_000258.1 |
23 |
00000070 |
17 |
NF1 |
transcript variant 1 |
NM_001042492.3 |
NP_001035957.1 |
16 |
00000102 |
2 |
NLRC4 |
NLR family, CARD domain containing 4, transcript variant 2 |
NM_001199138.1 |
NP_001186067.1 |
1 |
00000068 |
19 |
NLRP12 |
NLR family, pyrin domain containing 12, transcript variant 2 |
NM_144687.3 |
NP_653288.1 |
10 |
00000067 |
1 |
NLRP3 |
NLR family, pyrin domain containing 3, transcript variant 6 |
NM_001243133.1 |
NP_001230062.1 |
1 |
00000057 |
16 |
NOD2 |
nucleotide-binding oligomerization domain containing 2 |
NM_022162.1 |
NP_071445.1 |
7 |
00000103 |
16 |
NTHL1 |
nth endonuclease III-like 1 (E. coli) |
NM_002528.5 |
NP_002519.1 |
1 |
00000009 |
16 |
PALB2 |
partner and localizer of BRCA2 |
NM_024675.3 |
NP_078951.2 |
7 |
00000048 |
7 |
PAX4 |
paired box 4 |
NM_006193.2 |
NP_006184.2 |
4 |
00000104 |
4 |
PDGFRA |
platelet-derived growth factor receptor, alpha polypeptide |
NM_006206.4 |
NP_006197.1 |
3 |
00000066 |
13 |
PDX1 |
pancreatic and duodenal homeobox 1 |
NM_000209.3 |
NP_000200.1 |
4 |
00000032 |
7 |
PMS2 |
PMS2 postmeiotic segregation increased 2 (S. cerevisiae), transcript variant 1 |
NM_000535.5 |
NP_000526.1 |
7 |
00000079 |
19 |
POLD1 |
polymerase (DNA directed), delta 1, catalytic subunit, transcript variant 2 |
NM_002691.3 |
NP_002682.2 |
1 |
00000016 |
2 |
PROC |
protein C (inactivator of coagulation factors Va and VIIIa) |
NM_000312.3 |
NP_000303.1 |
2 |
00000017 |
3 |
PROS1 |
protein S (alpha) |
NM_000313.3 |
NP_000304.2 |
5 |
00000033 |
7 |
PRSS1 |
protease, serine, 1 (trypsin 1) |
NM_002769.4 |
NP_002760.1 |
- |
00000105 |
6 |
PSMB8 |
proteasome (prosome, macropain) subunit, beta type, 8, transcript variant 2 |
NM_148919.3 |
NP_683720.2 |
3 |
00000064 |
15 |
PSTPIP1 |
proline-serine-threonine phosphatase interacting protein 1 |
NM_003978.3 |
NP_003969.2 |
2 |
00000043 |
9 |
PTCH1 |
transcript variant 1a |
NM_001083602.1 |
NP_001077071.1 |
4 |
00000106 |
10 |
PTEN |
phosphatase and tensin homolog |
NM_000314.4 |
NP_000305.3 |
6 |
00000019 |
12 |
PTPN11 |
transcript variant 1 |
NM_002834.3 |
NP_002825.3 |
8 |
00000006 |
17 |
RAD51C |
transcript variant 1 |
NM_058216.2 |
NP_478123.1 |
5 |
00000007 |
17 |
RAD51D |
transcript variant 1 |
NM_002878.3 |
NP_002869.3 |
1 |
00000113 |
10 |
RBM20 |
RNA binding motif protein 20 |
NM_001134363.1 |
NP_001127835.1 |
2 |
00000107 |
1 |
RIT1 |
Ras-like without CAAX 1, transcript variant 2 |
NM_006912.5 |
NP_008843.1 |
2 |
00000108 |
7 |
SBDS |
Shwachman-Bodian-Diamond syndrome |
NM_016038.2 |
NP_057122.2 |
2 |
00000038 |
1 |
SDHB |
succinate dehydrogenase complex, subunit B, iron sulfur (Ip) |
NM_003000.2 |
NP_002991.2 |
2 |
00000021 |
X |
SHOX |
transcript variant 1 |
NM_000451.3 |
NP_000442.1 |
- |
00000076 |
15 |
SMAD3 |
transcript variant 1 |
NM_005902.3 |
NP_005893.1 |
1 |
|
How to query |
« First |
Prev |
|
1 |
2 |
|
Next |
Last » |