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' |
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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 |
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Symbol
|
HGNC ID
|
Gene
|
Chr
|
Band
|
Transcripts
|
Variants
|
Unique variants
|
Last updated
|
Associated with diseases
|
AIP |
HGNC:358 |
aryl hydrocarbon receptor interacting protein |
11 |
q13.2 |
1 |
2 |
2 |
2024-07-05 |
- |
AKT1 |
HGNC:391 |
AKT serine/threonine kinase 1 |
14 |
q32.33 |
1 |
1 |
1 |
2024-09-02 |
- |
ALK |
HGNC:427 |
ALK receptor tyrosine kinase |
2 |
p23.2-p23.1 |
1 |
18 |
18 |
2024-01-09 |
- |
APC |
HGNC:583 |
adenomatous polyposis coli |
5 |
q21-q22 |
4 |
224 |
91 |
2024-09-18 |
- |
ASS1 |
HGNC:758 |
argininosuccinate synthase 1 |
9 |
q34.11 |
1 |
- |
- |
N/A |
- |
ATM |
HGNC:795 |
ATM serine/threonine kinase |
11 |
q22.3 |
2 |
324 |
162 |
2024-09-18 |
- |
AXIN2 |
HGNC:904 |
axin 2 |
17 |
q24.1 |
1 |
4 |
4 |
2023-03-29 |
- |
BAP1 |
HGNC:950 |
BRCA1 associated protein 1 |
3 |
p21.1 |
2 |
12 |
12 |
2024-08-05 |
- |
BARD1 |
HGNC:952 |
BRCA1 associated RING domain 1 |
2 |
q35 |
1 |
132 |
39 |
2024-07-04 |
- |
BLM |
HGNC:1058 |
BLM RecQ like helicase |
15 |
q26.1 |
1 |
17 |
16 |
2024-09-02 |
- |
BMPR1A |
HGNC:1076 |
bone morphogenetic protein receptor type 1A |
10 |
q23.2 |
1 |
8 |
6 |
2023-10-25 |
- |
BRCA1 |
HGNC:1100 |
BRCA1, DNA repair associated |
17 |
q21.31 |
2 |
3024 |
203 |
2024-09-19 |
- |
BRCA2 |
HGNC:1101 |
BRCA2, DNA repair associated |
13 |
q13.1 |
2 |
3374 |
278 |
2024-09-13 |
- |
BRIP1 |
HGNC:20473 |
BRCA1 interacting protein C-terminal helicase 1 |
17 |
q23.2 |
1 |
119 |
34 |
2024-09-19 |
- |
CASR |
HGNC:1514 |
calcium sensing receptor |
3 |
q13.33-q21.1 |
1 |
4 |
4 |
2024-06-13 |
- |
CDC73 |
HGNC:16783 |
cell division cycle 73 |
1 |
q31.2 |
2 |
5 |
4 |
2024-07-04 |
- |
CDH1 |
HGNC:1748 |
cadherin 1 |
16 |
q22.1 |
1 |
105 |
24 |
2024-07-22 |
- |
CDK12 |
HGNC:24224 |
cyclin dependent kinase 12 |
17 |
q12 |
1 |
1 |
1 |
2023-05-10 |
- |
CDK4 |
HGNC:1773 |
cyclin dependent kinase 4 |
12 |
q14.1 |
- |
- |
- |
N/A |
- |
CDKN1B |
HGNC:1785 |
cyclin dependent kinase inhibitor 1B |
12 |
p13.1 |
1 |
1 |
1 |
2023-03-26 |
- |
CDKN1C |
HGNC:1786 |
cyclin dependent kinase inhibitor 1C |
11 |
p15.4 |
2 |
3 |
3 |
2023-11-28 |
- |
CDKN2A |
HGNC:1787 |
cyclin dependent kinase inhibitor 2A |
9 |
p21.3 |
2 |
8 |
6 |
2024-09-19 |
- |
CEBPA |
HGNC:1833 |
CCAAT enhancer binding protein alpha |
19 |
q13.11 |
1 |
4 |
3 |
2024-01-17 |
- |
CEP57 |
HGNC:30794 |
centrosomal protein 57 |
11 |
q21 |
8 |
1 |
1 |
2023-03-21 |
- |
CHEK2 |
HGNC:16627 |
checkpoint kinase 2 |
22 |
q12.1 |
4 |
127 |
66 |
2024-09-13 |
- |
CTNNA1 |
HGNC:2509 |
catenin alpha 1 |
5 |
q31.2 |
1 |
1 |
1 |
2023-03-26 |
- |
DICER1 |
HGNC:17098 |
dicer 1, ribonuclease III |
14 |
q32.13 |
3 |
16 |
14 |
2024-09-18 |
- |
DIS3L2 |
HGNC:28648 |
DIS3 like 3'-5' exoribonuclease 2 |
2 |
q37.1 |
1 |
7 |
7 |
2024-09-02 |
- |
EGFR |
HGNC:3236 |
epidermal growth factor receptor |
7 |
p11.2 |
1 |
6 |
6 |
2024-01-16 |
- |
EGLN1 |
HGNC:1232 |
egl-9 family hypoxia inducible factor 1 |
1 |
q42.2 |
1 |
- |
- |
N/A |
- |
EPCAM |
HGNC:11529 |
epithelial cell adhesion molecule |
2 |
p21 |
1 |
47 |
18 |
2024-09-12 |
- |
ERCC4 |
HGNC:3436 |
ERCC excision repair 4, endonuclease catalytic subunit |
16 |
p13.12 |
2 |
2 |
2 |
2024-07-18 |
- |
ERCC5 |
HGNC:3437 |
ERCC excision repair 5, endonuclease |
13 |
q33.1 |
2 |
2 |
2 |
2023-05-15 |
- |
FANCC |
HGNC:3584 |
FA complementation group C |
9 |
q22.32 |
1 |
15 |
11 |
2024-08-22 |
- |
FANCF |
HGNC:3587 |
FA complementation group F |
11 |
p14.3 |
1 |
2 |
2 |
2024-07-25 |
- |
FANCI |
HGNC:25568 |
FA complementation group I |
15 |
q26.1 |
1 |
7 |
7 |
2024-08-22 |
- |
FANCM |
HGNC:23168 |
FA complementation group M |
14 |
q21.2 |
2 |
29 |
24 |
2024-09-05 |
- |
FH |
HGNC:3700 |
fumarate hydratase |
1 |
q43 |
1 |
5 |
4 |
2024-03-26 |
- |
FLCN |
HGNC:27310 |
folliculin |
17 |
p11.2 |
2 |
15 |
11 |
2024-07-18 |
- |
GATA2 |
HGNC:4171 |
GATA binding protein 2 |
3 |
q21.3 |
1 |
3 |
3 |
2024-04-08 |
- |
GREM1 |
HGNC:2001 |
gremlin 1, DAN family BMP antagonist |
15 |
q13.3 |
1 |
1 |
1 |
2023-03-22 |
- |
HFE |
HGNC:4886 |
homeostatic iron regulator |
6 |
p22.2 |
2 |
- |
- |
N/A |
- |
HOXB13 |
HGNC:5112 |
homeobox B13 |
17 |
q21.32 |
1 |
4 |
4 |
2024-06-24 |
- |
HRAS |
HGNC:5173 |
HRas proto-oncogene, GTPase |
11 |
p15.5 |
1 |
1 |
1 |
2023-03-29 |
- |
KIF1B |
HGNC:16636 |
kinesin family member 1B |
1 |
p36.22 |
1 |
- |
- |
N/A |
- |
LZTR1 |
HGNC:6742 |
leucine zipper like transcription regulator 1 |
22 |
q11.21 |
1 |
8 |
8 |
2024-08-26 |
- |
MAX |
HGNC:6913 |
MYC associated factor X |
14 |
q23.3 |
1 |
- |
- |
N/A |
- |
MEN1 |
HGNC:7010 |
menin 1 |
11 |
q13 |
2 |
3 |
3 |
2024-04-18 |
- |
MET |
HGNC:7029 |
MET proto-oncogene, receptor tyrosine kinase |
7 |
q31 |
3 |
20 |
11 |
2024-08-15 |
- |
MITF |
HGNC:7105 |
melanogenesis associated transcription factor |
3 |
p13 |
1 |
4 |
2 |
2024-09-13 |
- |
MLH1 |
HGNC:7127 |
mutL homolog 1 |
3 |
p22.3 |
2 |
262 |
88 |
2024-09-16 |
- |
MRE11 |
HGNC:7230 |
MRE11 homolog, double strand break repair nuclease |
11 |
q21 |
1 |
2 |
2 |
2024-05-20 |
- |
MSH2 |
HGNC:7325 |
mutS homolog 2 |
2 |
p21 |
1 |
237 |
79 |
2024-09-18 |
- |
MSH3 |
HGNC:7326 |
mutS homolog 3 |
5 |
q14.1 |
1 |
11 |
10 |
2024-08-22 |
- |
MSH6 |
HGNC:7329 |
mutS homolog 6 |
2 |
p16 |
1 |
370 |
78 |
2024-09-16 |
- |
MUTYH |
HGNC:7527 |
mutY DNA glycosylase |
1 |
p34.1 |
4 |
161 |
39 |
2024-09-19 |
- |
MYCN |
HGNC:7559 |
MYCN proto-oncogene, bHLH transcription factor |
2 |
p24.3 |
1 |
- |
- |
N/A |
- |
NBAS |
HGNC:15625 |
NBAS subunit of NRZ tethering complex |
2 |
p24.3 |
1 |
- |
- |
N/A |
- |
NBN |
HGNC:7652 |
nibrin |
8 |
q21.3 |
1 |
113 |
25 |
2024-01-15 |
- |
NF1 |
HGNC:7765 |
neurofibromin 1 |
17 |
q11.2 |
2 |
37 |
23 |
2024-09-02 |
- |
NF2 |
HGNC:7773 |
neurofibromin 2 |
22 |
q12.2 |
1 |
6 |
6 |
2024-08-19 |
- |
NTHL1 |
HGNC:8028 |
nth like DNA glycosylase 1 |
16 |
p13.3 |
1 |
6 |
2 |
2024-08-26 |
- |
PALB2 |
HGNC:26144 |
partner and localizer of BRCA2 |
16 |
p12.2 |
2 |
175 |
61 |
2024-09-18 |
- |
PDGFRA |
HGNC:8803 |
platelet derived growth factor receptor alpha |
4 |
q12 |
1 |
11 |
10 |
2024-08-26 |
- |
PHOX2B |
HGNC:9143 |
paired like homeobox 2B |
4 |
p13 |
1 |
1 |
1 |
2023-03-29 |
- |
PMS1 |
HGNC:9121 |
PMS1 homolog 1, mismatch repair system component |
2 |
q32.2 |
1 |
3 |
3 |
2024-09-05 |
- |
PMS2 |
HGNC:9122 |
PMS1 homolog 2, mismatch repair system component |
7 |
p22.1 |
2 |
355 |
67 |
2024-09-12 |
- |
POLD1 |
HGNC:9175 |
DNA polymerase delta 1, catalytic subunit |
19 |
q13.3 |
2 |
23 |
19 |
2024-08-26 |
- |
POLE |
HGNC:9177 |
DNA polymerase epsilon, catalytic subunit |
12 |
q24.33 |
1 |
42 |
39 |
2024-09-02 |
- |
POLG |
HGNC:9179 |
DNA polymerase gamma, catalytic subunit |
15 |
q26.1 |
1 |
- |
- |
2019-07-12 |
- |
POT1 |
HGNC:17284 |
protection of telomeres 1 |
7 |
q31.33 |
1 |
2 |
2 |
2024-09-05 |
- |
PRKAR1A |
HGNC:9388 |
protein kinase cAMP-dependent type I regulatory subunit alpha |
17 |
q24.2 |
1 |
1 |
1 |
2023-05-08 |
- |
PTCH1 |
HGNC:9585 |
patched 1 |
9 |
q22.32 |
1 |
8 |
7 |
2024-07-15 |
- |
PTCH2 |
HGNC:9586 |
patched 2 |
1 |
p34.1 |
1 |
1 |
1 |
2023-11-28 |
- |
PTEN |
HGNC:9588 |
phosphatase and tensin homolog |
10 |
q23.31 |
1 |
19 |
11 |
2024-03-11 |
- |
RAD50 |
HGNC:9816 |
RAD50 double strand break repair protein |
5 |
q31.1 |
1 |
19 |
14 |
2024-05-24 |
- |
RAD51C |
HGNC:9820 |
RAD51 paralog C |
17 |
q22 |
2 |
22 |
18 |
2024-08-26 |
- |
RAD51D |
HGNC:9823 |
RAD51 paralog D |
17 |
q12 |
3 |
30 |
17 |
2024-09-02 |
- |
RB1 |
HGNC:9884 |
RB transcriptional corepressor 1 |
13 |
q14.2 |
1 |
6 |
6 |
2024-01-18 |
- |
RECQL |
HGNC:9948 |
RecQ like helicase |
12 |
p12.1 |
1 |
2 |
2 |
2023-03-29 |
- |
RECQL4 |
HGNC:9949 |
RecQ like helicase 4 |
8 |
q24.3 |
1 |
17 |
17 |
2024-09-13 |
- |
RET |
HGNC:9967 |
ret proto-oncogene |
10 |
q11.21 |
2 |
15 |
11 |
2024-09-02 |
- |
RINT1 |
HGNC:21876 |
RAD50 interactor 1 |
7 |
q22.3 |
2 |
4 |
4 |
2024-08-19 |
- |
SDHA |
HGNC:10680 |
succinate dehydrogenase complex flavoprotein subunit A |
5 |
p15.33 |
1 |
6 |
6 |
2024-04-15 |
- |
SDHAF2 |
HGNC:26034 |
succinate dehydrogenase complex assembly factor 2 |
11 |
q12.2 |
1 |
- |
- |
N/A |
- |
SDHB |
HGNC:10681 |
succinate dehydrogenase complex iron sulfur subunit B |
1 |
p36.13 |
2 |
11 |
9 |
2024-08-05 |
- |
SDHC |
HGNC:10682 |
succinate dehydrogenase complex subunit C |
1 |
q23.3 |
1 |
4 |
4 |
2024-08-19 |
- |
SDHD |
HGNC:10683 |
succinate dehydrogenase complex subunit D |
11 |
q23.1 |
1 |
4 |
2 |
2024-08-22 |
- |
SLX4 |
HGNC:23845 |
SLX4 structure-specific endonuclease subunit |
16 |
p13.3 |
3 |
3 |
3 |
2024-07-18 |
- |
SMAD4 |
HGNC:6770 |
SMAD family member 4 |
18 |
q21.2 |
1 |
6 |
5 |
2024-06-24 |
- |
SMARCA4 |
HGNC:11100 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 |
19 |
p13.2 |
1 |
6 |
6 |
2024-09-02 |
- |
SMARCB1 |
HGNC:11103 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 |
22 |
q11.23 |
1 |
1 |
1 |
2023-03-29 |
- |
SPRED1 |
HGNC:20249 |
sprouty related EVH1 domain containing 1 |
15 |
q14 |
1 |
1 |
1 |
2024-03-21 |
- |
STK11 |
HGNC:11389 |
serine/threonine kinase 11 |
19 |
p13.3 |
1 |
35 |
24 |
2024-04-04 |
- |
SUFU |
HGNC:16466 |
SUFU negative regulator of hedgehog signaling |
10 |
q24.32 |
1 |
2 |
2 |
2023-03-26 |
- |
TERT |
HGNC:11730 |
telomerase reverse transcriptase |
5 |
p15.33 |
1 |
4 |
2 |
2024-08-22 |
- |
TMEM127 |
HGNC:26038 |
transmembrane protein 127 |
2 |
q11.2 |
1 |
2 |
2 |
2024-07-18 |
- |
TP53 |
HGNC:11998 |
tumor protein p53 |
17 |
p13.1 |
2 |
84 |
26 |
2024-01-15 |
- |
TSC1 |
HGNC:12362 |
tuberous sclerosis 1 |
9 |
q34 |
1 |
7 |
7 |
2024-07-05 |
- |
TSC2 |
HGNC:12363 |
tuberous sclerosis 2 |
16 |
p13.3 |
1 |
5 |
5 |
2024-03-07 |
- |
|
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