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 |
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 Symbol
|

 Gene
|

 Chr
|
 Band
|

 Transcripts
|

 Variants
|

 Unique variants
|

 Last updated
|
 Associated with diseases
|
ABCC9 |
ATP binding cassette subfamily C member 9 |
12 |
p12.1 |
9 |
56 |
54 |
2019-04-08 |
WD |
ACADM |
acyl-CoA dehydrogenase medium chain |
1 |
p31.1 |
1 |
56 |
56 |
2023-07-01 |
MCADD, WD |
ACADS |
acyl-CoA dehydrogenase short chain |
12 |
q24.31 |
1 |
38 |
38 |
2023-07-01 |
SCADD, WD |
ACADVL |
acyl-CoA dehydrogenase very long chain |
17 |
p13.1 |
1 |
94 |
93 |
2023-07-01 |
VLCADD, WD |
ACAT1 |
acetyl-CoA acetyltransferase 1 |
11 |
q22.3 |
1 |
28 |
28 |
2023-07-02 |
BKD, WD |
ACTC1 |
actin, alpha, cardiac muscle 1 |
15 |
q14 |
1 |
27 |
21 |
2019-04-08 |
WD |
ACTN2 |
actinin, alpha 2 |
1 |
q42-q43 |
5 |
78 |
72 |
2018-11-13 |
WD |
AKAP9 |
A kinase (PRKA) anchor protein (yotiao) 9 |
7 |
q21-q22 |
1 |
48 |
47 |
N/A |
WD |
ANK2 |
ankyrin 2, neuronal |
4 |
q25-q26 |
1 |
73 |
59 |
N/A |
WD |
APC |
adenomatous polyposis coli |
5 |
q21-q22 |
1 |
275 |
146 |
N/A |
WD |
ATP7B |
ATPase copper transporting beta |
13 |
q14.3 |
1 |
- |
- |
2023-11-29 |
WD |
AXIN2 |
axin 2 |
17 |
q23-q24 |
1 |
128 |
91 |
N/A |
WD |
BARD1 |
BRCA1 associated RING domain 1 |
2 |
q34-q35 |
1 |
161 |
96 |
N/A |
WD |
BCL11A |
B cell CLL/lymphoma 11A |
2 |
p16.1 |
1 |
25 |
19 |
2019-04-25 |
WD |
BRCA1 |
BRCA1, DNA repair associated |
17 |
q21.31 |
2 |
229 |
132 |
2018-11-14 |
WD |
BRCA2 |
BRCA2, DNA repair associated |
13 |
q13.1 |
1 |
112 |
61 |
2019-04-15 |
WD |
BRIP1 |
BRCA1 interacting protein C-terminal helicase 1 |
17 |
q22.2 |
1 |
180 |
127 |
N/A |
WD |
CACNA1C |
calcium channel, voltage-dependent, L type, alpha 1C subunit |
12 |
p13.3 |
1 |
7 |
6 |
N/A |
WD |
CAV3 |
caveolin 3 |
3 |
p25 |
1 |
17 |
14 |
N/A |
WD |
CDC73 |
cell division cycle 73 |
1 |
q25 |
1 |
125 |
89 |
N/A |
WD |
CDH1 |
cadherin 1, type 1, E-cadherin (epithelial) |
16 |
q22.1 |
1 |
220 |
154 |
N/A |
WD |
CHEK2 |
checkpoint kinase 2 |
22 |
q12.1 |
1 |
241 |
94 |
N/A |
WD |
CPT1A |
carnitine palmitoyltransferase 1A |
11 |
q13.3 |
1 |
27 |
27 |
2023-07-02 |
WD |
CPT2 |
carnitine palmitoyltransferase 2 |
1 |
p32.3 |
1 |
15 |
15 |
2023-07-02 |
WD |
CSRP3 |
cysteine and glycine-rich protein 3 (cardiac LIM protein) |
11 |
p15.1 |
1 |
36 |
27 |
N/A |
WD |
CTF1 |
cardiotrophin 1 |
16 |
p11.2 |
1 |
6 |
5 |
N/A |
WD |
DES |
desmin |
2 |
q35 |
1 |
64 |
55 |
N/A |
WD |
DSC2 |
desmocollin 2 |
18 |
q12.1 |
1 |
77 |
66 |
N/A |
WD |
DSG2 |
desmoglein 2 |
18 |
q12.1 |
1 |
105 |
74 |
N/A |
WD |
DSP |
desmoplakin |
6 |
p24.3 |
1 |
185 |
171 |
N/A |
WD |
ELAC2 |
elaC homolog 2 (E. coli) |
17 |
p11.2 |
1 |
61 |
42 |
N/A |
WD |
EMD |
emerin |
X |
q27.3-q28 |
1 |
49 |
44 |
N/A |
WD |
EPCAM |
epithelial cell adhesion molecule |
2 |
p21 |
1 |
46 |
45 |
N/A |
WD |
ETFA |
electron transfer flavoprotein subunit alpha |
15 |
q24.2-q24.3 |
1 |
6 |
6 |
2023-07-02 |
MADD, WD |
ETFB |
electron transfer flavoprotein subunit beta |
19 |
q13.41 |
1 |
2 |
2 |
2023-07-02 |
MADD, WD |
ETFDH |
electron transfer flavoprotein dehydrogenase |
4 |
q32.1 |
1 |
143 |
143 |
2023-07-02 |
MADD, WD |
FH |
fumarate hydratase |
1 |
q42.1 |
1 |
198 |
132 |
N/A |
WD |
FRAS1 |
Fraser extracellular matrix complex subunit 1 |
4 |
q21.21 |
1 |
- |
- |
N/A |
WD |
FREM1 |
FRAS1 related extracellular matrix 1 |
9 |
p22.3 |
1 |
2 |
2 |
N/A |
WD |
FREM2 |
FRAS1 related extracellular matrix protein 2 |
13 |
q13.3 |
1 |
9 |
7 |
N/A |
WD |
GATA1 |
GATA binding protein 1 |
X |
p11.23 |
1 |
7 |
7 |
2019-04-23 |
WD |
GJB6 |
gap junction protein, beta 6, 30kDa |
13 |
q12 |
1 |
- |
- |
N/A |
WD |
GLA |
galactosidase, alpha |
X |
q21.3-q22 |
1 |
732 |
450 |
N/A |
WD |
HADHA |
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha |
2 |
p23.3 |
1 |
2 |
2 |
2023-07-02 |
TFPD, WD |
HADHB |
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta |
2 |
p23.3 |
1 |
14 |
14 |
2023-07-02 |
TFPD, WD |
HBA1 |
hemoglobin subunit alpha 1 |
16 |
p13.3 |
1 |
46 |
45 |
2019-04-27 |
abnormal hemoglobin, alpha-thal, HbH, WD |
HBA2 |
hemoglobin subunit alpha 2 |
16 |
p13.3 |
1 |
57 |
56 |
2019-04-27 |
abnormal hemoglobin, alpha-thal, HbH, WD |
HBB |
hemoglobin subunit beta |
11 |
p15.4 |
1 |
174 |
131 |
2019-04-25 |
abnormal hemoglobin, beta-thal, HPFH, WD |
HBD |
hemoglobin subunit delta |
11 |
p15.4 |
1 |
35 |
31 |
2019-04-19 |
abnormal hemoglobin, HPFH, WD |
HBE1 |
hemoglobin subunit epsilon 1 |
11 |
p15.4 |
1 |
14 |
7 |
2019-04-25 |
abnormal hemoglobin, HPFH, WD |
HBG1 |
hemoglobin subunit gamma 1 |
11 |
p15.4 |
1 |
28 |
21 |
2019-04-25 |
abnormal hemoglobin, HPFH, WD |
HBG2 |
hemoglobin subunit gamma 2 |
11 |
p15.4 |
1 |
29 |
18 |
2019-04-25 |
abnormal hemoglobin, HPFH, WD |
HBS1L |
HBS1 like translational GTPase |
6 |
q23.3 |
1 |
31 |
29 |
2019-04-25 |
WD |
HDAC6 |
histone deacetylase 6 |
X |
p11.23 |
1 |
1 |
1 |
N/A |
WD |
HSD17B3 |
hydroxysteroid (17-beta) dehydrogenase 3 |
9 |
q22 |
1 |
34 |
29 |
N/A |
WD |
HSD3B2 |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 |
1 |
p12 |
1 |
88 |
58 |
N/A |
WD |
JAG1 |
jagged 1 |
20 |
p12.1-p11.23 |
1 |
474 |
378 |
N/A |
WD |
KCNE1 |
potassium voltage-gated channel, Isk-related family, member 1 |
21 |
q22.1-q22.2 |
1 |
117 |
63 |
N/A |
WD |
KCNE2 |
potassium voltage-gated channel, Isk-related family, member 2 |
21 |
q22.1 |
1 |
54 |
38 |
N/A |
WD |
KCNH2 |
potassium voltage-gated channel, subfamily H (eag-related), member 2 |
7 |
q36.1 |
1 |
996 |
696 |
N/A |
WD |
KCNJ2 |
potassium inwardly-rectifying channel, subfamily J, member 2 |
17 |
q24.3 |
1 |
94 |
65 |
N/A |
WD |
KCNJ5 |
potassium inwardly-rectifying channel, subfamily J, member 5 |
11 |
q24 |
1 |
4 |
4 |
N/A |
WD |
KCNQ1 |
potassium voltage-gated channel, KQT-like subfamily, member 1 |
11 |
p15.5 |
1 |
961 |
572 |
N/A |
WD |
KIT |
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog |
4 |
q11-q12 |
1 |
152 |
113 |
N/A |
WD |
KLF1 |
Kruppel like factor 1 |
19 |
p13.13 |
2 |
23 |
19 |
2019-04-25 |
Hypochromic anemia, WD |
KRT1 |
keratin 1 |
12 |
q13.13 |
1 |
- |
- |
N/A |
WD |
KRT10 |
keratin 10 |
17 |
q21.2 |
1 |
- |
- |
N/A |
WD |
KRT14 |
keratin 14 |
17 |
q21.2 |
1 |
- |
- |
N/A |
WD |
KRT5 |
keratin 5 |
12 |
q13.13 |
1 |
- |
- |
N/A |
WD |
KRT9 |
keratin 9 |
17 |
q21.1-q21.2 |
1 |
70 |
20 |
N/A |
WD |
LAMP2 |
lysosomal-associated membrane protein 2 |
X |
q24-q25 |
1 |
45 |
41 |
N/A |
WD |
LDB3 |
LIM domain binding 3 |
10 |
q22.3-q23.2 |
1 |
41 |
40 |
N/A |
WD |
LMBRD1 |
LMBR1 domain containing 1 |
6 |
q13 |
1 |
73 |
63 |
N/A |
WD |
LMNA |
lamin A/C |
1 |
q22 |
1 |
475 |
229 |
N/A |
WD |
MCEE |
methylmalonyl CoA epimerase |
2 |
p13.3 |
1 |
20 |
17 |
N/A |
WD |
MET |
met proto-oncogene (hepatocyte growth factor receptor) |
7 |
q31 |
1 |
122 |
104 |
N/A |
WD |
MLH1 |
mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) |
3 |
p22.3 |
1 |
140 |
90 |
N/A |
WD |
MLH3 |
mutL homolog 3 (E. coli) |
14 |
q24.3 |
1 |
54 |
48 |
N/A |
WD |
MMAA |
methylmalonic aciduria (cobalamin deficiency) cblA type |
4 |
q31.1 |
1 |
104 |
57 |
N/A |
WD |
MMAB |
methylmalonic aciduria (cobalamin deficiency) cblB type |
12 |
q24 |
1 |
127 |
79 |
N/A |
WD |
MMACHC |
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria |
1 |
p34.1 |
1 |
371 |
77 |
N/A |
WD |
MMADHC |
methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria |
2 |
q23 |
1 |
54 |
45 |
N/A |
WD |
MRE11A |
MRE11 meiotic recombination 11 homolog A (S. cerevisiae) |
11 |
q21 |
1 |
35 |
34 |
N/A |
WD |
MSH2 |
mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) |
2 |
p21 |
1 |
119 |
81 |
N/A |
WD |
MSH6 |
mutS homolog 6 (E. coli) |
2 |
p16 |
1 |
7 |
7 |
N/A |
WD |
MTR |
5-methyltetrahydrofolate-homocysteine methyltransferase |
1 |
q43 |
1 |
220 |
182 |
N/A |
WD |
MTRR |
5-methyltetrahydrofolate-homocysteine methyltransferase reductase |
5 |
p15.31 |
1 |
161 |
123 |
N/A |
WD |
MUT |
methylmalonyl CoA mutase |
6 |
p21 |
1 |
632 |
319 |
N/A |
WD |
MYB |
MYB proto-oncogene, transcription factor |
6 |
q23.3 |
1 |
14 |
13 |
2019-04-25 |
WD |
MYBPC3 |
myosin binding protein C, cardiac |
11 |
p11.2 |
1 |
340 |
208 |
N/A |
WD |
MYH7 |
myosin, heavy chain 7, cardiac muscle, beta |
14 |
q11.2-q13 |
1 |
559 |
330 |
N/A |
WD |
MYL2 |
myosin, light chain 2, regulatory, cardiac, slow |
12 |
q24.11 |
1 |
33 |
20 |
N/A |
WD |
MYL3 |
myosin, light chain 3, alkali; ventricular, skeletal, slow |
3 |
p |
1 |
19 |
19 |
N/A |
WD |
NBN |
nibrin |
8 |
q21-q24 |
1 |
92 |
59 |
N/A |
WD |
NMNAT1 |
nicotinamide nucleotide adenylyltransferase 1 |
1 |
p36.22 |
1 |
19 |
8 |
N/A |
WD |
NOTCH2 |
notch 2 |
1 |
p13-p11 |
1 |
37 |
35 |
N/A |
WD |
NTRK1 |
neurotrophic tyrosine kinase, receptor, type 1 |
1 |
q21-q22 |
1 |
122 |
104 |
N/A |
WD |
PALB2 |
partner and localizer of BRCA2 |
16 |
p12.1 |
1 |
187 |
146 |
N/A |
WD |
PDGFRA |
platelet-derived growth factor receptor, alpha polypeptide |
4 |
q12 |
1 |
72 |
66 |
N/A |
WD |
PKP2 |
plakophilin 2 |
12 |
p11 |
1 |
206 |
136 |
N/A |
WD |
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