How to query this table
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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.
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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 |
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Next |
Last » |
Symbol
|
Gene
|
Chr
|
Band
|
Transcripts
|
Variants
|
Unique variants
|
Last updated
|
Associated with diseases
|
ACD |
ACD shelterin complex subunit and telomerase recruitment factor |
16 |
q22.1 |
1 |
2 |
2 |
2024-10-21 |
- |
AIP |
aryl hydrocarbon receptor interacting protein |
11 |
q13.2 |
1 |
2 |
2 |
2024-07-05 |
- |
AKT1 |
AKT serine/threonine kinase 1 |
14 |
q32.33 |
1 |
1 |
1 |
2024-09-02 |
- |
ALK |
ALK receptor tyrosine kinase |
2 |
p23.2-p23.1 |
2 |
19 |
19 |
2024-10-21 |
- |
APC |
adenomatous polyposis coli |
5 |
q21-q22 |
4 |
230 |
92 |
2024-11-11 |
- |
ASS1 |
argininosuccinate synthase 1 |
9 |
q34.11 |
1 |
- |
- |
N/A |
- |
ATM |
ATM serine/threonine kinase |
11 |
q22.3 |
2 |
331 |
165 |
2024-11-01 |
- |
AXIN2 |
axin 2 |
17 |
q24.1 |
1 |
4 |
4 |
2023-03-29 |
- |
BAP1 |
BRCA1 associated protein 1 |
3 |
p21.1 |
2 |
12 |
12 |
2024-08-05 |
- |
BARD1 |
BRCA1 associated RING domain 1 |
2 |
q35 |
2 |
133 |
39 |
2024-10-10 |
- |
BLM |
BLM RecQ like helicase |
15 |
q26.1 |
1 |
18 |
17 |
2024-11-01 |
- |
BMPR1A |
bone morphogenetic protein receptor type 1A |
10 |
q23.2 |
1 |
8 |
6 |
2023-10-25 |
- |
BRCA1 |
BRCA1, DNA repair associated |
17 |
q21.31 |
2 |
3027 |
205 |
2024-11-11 |
- |
BRCA2 |
BRCA2, DNA repair associated |
13 |
q13.1 |
2 |
3376 |
278 |
2024-10-07 |
- |
BRIP1 |
BRCA1 interacting protein C-terminal helicase 1 |
17 |
q23.2 |
2 |
123 |
37 |
2024-11-11 |
- |
BUB1B |
BUB1 mitotic checkpoint serine/threonine kinase B |
15 |
q15.1 |
1 |
1 |
1 |
2024-10-21 |
- |
CASR |
calcium sensing receptor |
3 |
q13.33-q21.1 |
1 |
4 |
4 |
2024-06-13 |
- |
CDC73 |
cell division cycle 73 |
1 |
q31.2 |
2 |
6 |
5 |
2024-11-11 |
- |
CDH1 |
cadherin 1 |
16 |
q22.1 |
1 |
105 |
24 |
2024-07-22 |
- |
CDK12 |
cyclin dependent kinase 12 |
17 |
q12 |
1 |
1 |
1 |
2023-05-10 |
- |
CDK4 |
cyclin dependent kinase 4 |
12 |
q14.1 |
- |
- |
- |
N/A |
- |
CDKN1B |
cyclin dependent kinase inhibitor 1B |
12 |
p13.1 |
1 |
1 |
1 |
2023-03-26 |
- |
CDKN1C |
cyclin dependent kinase inhibitor 1C |
11 |
p15.4 |
2 |
3 |
3 |
2023-11-28 |
- |
CDKN2A |
cyclin dependent kinase inhibitor 2A |
9 |
p21.3 |
2 |
8 |
6 |
2024-09-19 |
- |
CEBPA |
CCAAT enhancer binding protein alpha |
19 |
q13.11 |
1 |
4 |
3 |
2024-01-17 |
- |
CEP57 |
centrosomal protein 57 |
11 |
q21 |
8 |
1 |
1 |
2023-03-21 |
- |
CFTR |
CF transmembrane conductance regulator |
7 |
q31.2 |
1 |
1 |
1 |
2024-11-11 |
- |
CHEK2 |
checkpoint kinase 2 |
22 |
q12.1 |
4 |
130 |
68 |
2024-11-01 |
- |
COL1A1 |
collagen type I alpha 1 chain |
17 |
q21.33 |
1 |
1 |
1 |
2024-10-03 |
- |
CTC1 |
CST telomere replication complex component 1 |
17 |
p13.1 |
1 |
4 |
4 |
2024-11-11 |
- |
CTNNA1 |
catenin alpha 1 |
5 |
q31.2 |
1 |
1 |
1 |
2023-03-26 |
- |
DICER1 |
dicer 1, ribonuclease III |
14 |
q32.13 |
3 |
16 |
14 |
2024-09-18 |
- |
DIS3L2 |
DIS3 like 3'-5' exoribonuclease 2 |
2 |
q37.1 |
1 |
8 |
8 |
2024-11-11 |
- |
DLX5 |
distal-less homeobox 5 |
7 |
q21.3 |
- |
- |
- |
N/A |
- |
EGFR |
epidermal growth factor receptor |
7 |
p11.2 |
1 |
6 |
6 |
2024-01-16 |
- |
EGLN1 |
egl-9 family hypoxia inducible factor 1 |
1 |
q42.2 |
1 |
- |
- |
N/A |
- |
EPCAM |
epithelial cell adhesion molecule |
2 |
p21 |
1 |
47 |
18 |
2024-09-12 |
- |
ERCC2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
19 |
q13.32 |
1 |
3 |
3 |
2024-10-03 |
- |
ERCC4 |
ERCC excision repair 4, endonuclease catalytic subunit |
16 |
p13.12 |
2 |
2 |
2 |
2024-07-18 |
- |
ERCC5 |
ERCC excision repair 5, endonuclease |
13 |
q33.1 |
2 |
2 |
2 |
2023-05-15 |
- |
FAN1 |
FANCD2 and FANCI associated nuclease 1 |
15 |
q13.3 |
2 |
1 |
1 |
2024-09-30 |
- |
FANCA |
FA complementation group A |
16 |
q24.3 |
1 |
17 |
16 |
2024-11-01 |
- |
FANCC |
FA complementation group C |
9 |
q22.32 |
1 |
16 |
12 |
2024-11-01 |
- |
FANCD2 |
FA complementation group D2 |
3 |
p25.3 |
1 |
3 |
3 |
2024-11-14 |
- |
FANCE |
FA complementation group E |
6 |
p21.31 |
1 |
1 |
1 |
2024-10-21 |
- |
FANCF |
FA complementation group F |
11 |
p14.3 |
1 |
3 |
2 |
2024-10-10 |
- |
FANCG |
FA complementation group G |
9 |
p13.3 |
1 |
1 |
1 |
2024-10-10 |
- |
FANCI |
FA complementation group I |
15 |
q26.1 |
1 |
9 |
9 |
2024-11-11 |
- |
FANCM |
FA complementation group M |
14 |
q21.2 |
2 |
34 |
27 |
2024-11-14 |
- |
FH |
fumarate hydratase |
1 |
q43 |
1 |
5 |
4 |
2024-03-26 |
- |
FLCN |
folliculin |
17 |
p11.2 |
2 |
15 |
11 |
2024-07-18 |
- |
G6PC1 |
glucose-6-phosphatase catalytic subunit 1 |
17 |
q21.31 |
1 |
1 |
1 |
2024-09-30 |
- |
GALNT12 |
polypeptide N-acetylgalactosaminyltransferase 12 |
9 |
q22.33 |
1 |
3 |
3 |
2024-10-23 |
- |
GATA2 |
GATA binding protein 2 |
3 |
q21.3 |
1 |
3 |
3 |
2024-04-08 |
- |
GJB2 |
gap junction protein beta 2 |
13 |
q12.11 |
1 |
1 |
1 |
2024-09-30 |
- |
GREM1 |
gremlin 1, DAN family BMP antagonist |
15 |
q13.3 |
1 |
1 |
1 |
2023-03-22 |
- |
HFE |
homeostatic iron regulator |
6 |
p22.2 |
2 |
- |
- |
N/A |
- |
HOXB13 |
homeobox B13 |
17 |
q21.32 |
2 |
5 |
5 |
2024-10-07 |
- |
HRAS |
HRas proto-oncogene, GTPase |
11 |
p15.5 |
1 |
1 |
1 |
2023-03-29 |
- |
IGHMBP2 |
immunoglobulin mu DNA binding protein 2 |
11 |
q13.3 |
1 |
1 |
1 |
2024-10-03 |
- |
KIF1B |
kinesin family member 1B |
1 |
p36.22 |
1 |
- |
- |
N/A |
- |
KIT |
KIT proto-oncogene, receptor tyrosine kinase |
4 |
q12 |
1 |
1 |
1 |
2024-10-10 |
- |
LZTR1 |
leucine zipper like transcription regulator 1 |
22 |
q11.21 |
3 |
11 |
11 |
2024-10-24 |
- |
MAX |
MYC associated factor X |
14 |
q23.3 |
1 |
- |
- |
N/A |
- |
MEN1 |
menin 1 |
11 |
q13 |
4 |
4 |
4 |
2024-10-07 |
- |
MERTK |
MER proto-oncogene, tyrosine kinase |
2 |
q13 |
1 |
1 |
1 |
2024-10-21 |
- |
MET |
MET proto-oncogene, receptor tyrosine kinase |
7 |
q31 |
3 |
21 |
12 |
2024-11-11 |
- |
MITF |
melanogenesis associated transcription factor |
3 |
p13 |
1 |
5 |
3 |
2024-11-11 |
- |
MLH1 |
mutL homolog 1 |
3 |
p22.3 |
2 |
262 |
88 |
2024-09-16 |
- |
MRE11 |
MRE11 homolog, double strand break repair nuclease |
11 |
q21 |
1 |
6 |
6 |
2024-11-11 |
- |
MSH2 |
mutS homolog 2 |
2 |
p21 |
1 |
239 |
81 |
2024-10-21 |
- |
MSH3 |
mutS homolog 3 |
5 |
q14.1 |
1 |
14 |
11 |
2024-10-10 |
- |
MSH6 |
mutS homolog 6 |
2 |
p16 |
1 |
372 |
78 |
2024-11-11 |
- |
MUTYH |
mutY DNA glycosylase |
1 |
p34.1 |
4 |
162 |
39 |
2024-10-21 |
- |
MYCN |
MYCN proto-oncogene, bHLH transcription factor |
2 |
p24.3 |
1 |
- |
- |
N/A |
- |
NBAS |
NBAS subunit of NRZ tethering complex |
2 |
p24.3 |
1 |
- |
- |
N/A |
- |
NBN |
nibrin |
8 |
q21.3 |
1 |
114 |
26 |
2024-11-14 |
- |
NF1 |
neurofibromin 1 |
17 |
q11.2 |
2 |
39 |
25 |
2024-11-11 |
- |
NF2 |
neurofibromin 2 |
22 |
q12.2 |
1 |
6 |
6 |
2024-08-19 |
- |
NSD1 |
nuclear receptor binding SET domain protein 1 |
5 |
q35.3 |
1 |
1 |
1 |
2024-10-21 |
- |
NTHL1 |
nth like DNA glycosylase 1 |
16 |
p13.3 |
1 |
7 |
3 |
2024-10-07 |
- |
PAH |
phenylalanine hydroxylase |
12 |
q23.2 |
1 |
1 |
1 |
2024-09-30 |
- |
PALB2 |
partner and localizer of BRCA2 |
16 |
p12.2 |
2 |
175 |
61 |
2024-09-18 |
- |
PDGFRA |
platelet derived growth factor receptor alpha |
4 |
q12 |
2 |
13 |
12 |
2024-10-10 |
- |
PHOX2B |
paired like homeobox 2B |
4 |
p13 |
1 |
1 |
1 |
2023-03-29 |
- |
PMS1 |
PMS1 homolog 1, mismatch repair system component |
2 |
q32.2 |
1 |
3 |
3 |
2024-09-05 |
- |
PMS2 |
PMS1 homolog 2, mismatch repair system component |
7 |
p22.1 |
2 |
357 |
68 |
2024-10-03 |
- |
POLD1 |
DNA polymerase delta 1, catalytic subunit |
19 |
q13.3 |
2 |
24 |
20 |
2024-11-11 |
- |
POLE |
DNA polymerase epsilon, catalytic subunit |
12 |
q24.33 |
2 |
48 |
45 |
2024-11-11 |
- |
POLG |
DNA polymerase gamma, catalytic subunit |
15 |
q26.1 |
1 |
- |
- |
2019-07-12 |
- |
POLH |
DNA polymerase eta |
6 |
p21.1 |
1 |
1 |
1 |
2024-10-10 |
- |
POT1 |
protection of telomeres 1 |
7 |
q31.33 |
1 |
2 |
2 |
2024-09-05 |
- |
PRF1 |
perforin 1 |
10 |
q22.1 |
1 |
1 |
1 |
2024-10-03 |
- |
PRKAR1A |
protein kinase cAMP-dependent type I regulatory subunit alpha |
17 |
q24.2 |
1 |
1 |
1 |
2023-05-08 |
- |
PTCH1 |
patched 1 |
9 |
q22.32 |
1 |
9 |
8 |
2024-10-07 |
- |
PTCH2 |
patched 2 |
1 |
p34.1 |
1 |
1 |
1 |
2023-11-28 |
- |
PTEN |
phosphatase and tensin homolog |
10 |
q23.31 |
1 |
19 |
11 |
2024-03-11 |
- |
RAD50 |
RAD50 double strand break repair protein |
5 |
q31.1 |
1 |
22 |
16 |
2024-11-01 |
- |
RAD51B |
RAD51 paralog B |
14 |
q24.1 |
1 |
4 |
4 |
2024-10-10 |
- |
RAD51C |
RAD51 paralog C |
17 |
q22 |
3 |
23 |
19 |
2024-10-23 |
- |
|
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