Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
RET (ret proto-oncogene)
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Unique variants in the RET gene
The variants shown are described using the NM_020975.4 transcript reference sequence.
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Effect
: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.
Reported
: The number of times this variant has been reported in the database.
Exon
: Number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = exons 3 to 7, 8i_9 = border intron 8/exon 9.
DNA change (cDNA)
: Description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup.
RNA change
: Description of variant at RNA level (following HGVS recommendations).
r.123c>u
r.? = unknown
r.(?) = RNA not analysed but probably transcribed copy of DNA variant
r.spl? = RNA not analysed but variant probably affects splicing
r.(spl?) = RNA not analysed but variant may affect splicing
r.0? = change expected to abolish transcription
Protein
: Description of variant at protein level (following HGVS recommendations).
p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
p.Arg345Pro = change derived from RNA analysis
p.? = unknown effect
p.0? = probably no protein produced
Type
: Type of variant at DNA level; note that the variant type can also be derived from the variant description (for all levels).
All options:
Substitution
Deletion
Duplication
Insertion
Inversion
Insertion/Deletion
Translocation
Other/Complex
DNA change (genomic) (hg19)
: Description of variant at DNA level, based on the genomic DNA reference sequence (following HGVS recommendations).
g.12345678C>T
g.12345678_12345890del
g.12345678_12345890dup
Reference
: Reference to publication describing the variant, including links to OMIM (when available), PubMed or or other source, e.g. "den Dunnen ASHG2003 P2346".
DB-ID
: Database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro.
Frequency
: Frequency in which the variant was found; e.g 5/760 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested).
Variant remarks
: Remarks regarding the variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.
ClassClinical
: ClassClinical
How to query this table
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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.
251 entries on 3 pages. Showing entries 1 - 100.
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« First
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1
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Effect
Reported
Exon
DNA change (cDNA)
RNA change
Protein
Type
DNA change (genomic) (hg19)
Reference
DB-ID
Frequency
Variant remarks
ClassClinical
Owner
./.
1
01
c.-37G>C
-
-
Substitution
-
GenBank
RET_00152
-
peripheral blood
-
Qi Ming
./.
2
01
c.-27C>G
-
-
Substitution
-
GenBank
RET_00037
-
T-cell lymphoma, Blood
-
Qi Ming
./.
11
7, 07
c.1296A>G
-
p.(=), p.Ala432Ala
Substitution
-
GenBank
RET_00012
0.02
Blood, colonic tissue,blood, ?, Peripheral Blood
-
Qi Ming
./.
2
2
c.135A>G
-
p.(=)
Substitution
-
GenBank
RET_00217
-
Blood
-
Qi Ming
./.
3
07, 7
c.1465G>A
-
p.Asp489Asn
Substitution
-
GenBank
RET_00189
-
Peripheral Blood, Blood, leukocytes
-
Qi Ming
./.
2
8, 08
c.1597G>A
-
p.Gly533Ser
Substitution
-
GenBank
RET_00020
-
blood, ?
-
Qi Ming
./.
1
11
c.1880-4A>G
-
-
Substitution
-
GenBank
RET_00227
-
blood
-
Qi Ming
./.
2
11
c.2037C>T
-
p.Pro679Pro, p.(=)
Substitution
-
GenBank
RET_00205
-
Peripheral Blood, blood
-
Qi Ming
./.
9
11
c.2071G>A
-
p.Gly691Ser, p.(=)
Substitution
-
GenBank
RET_00058
80.3%, 0.02
Blood, peripheral blood mononuclear cells , Peripheral Blood, unknown,
1 more item
-
Qi Ming
./.
2
11
c.2081G>A
-
p.Arg694Glu, p.Arg694Gln
Substitution
-
GenBank
RET_00155
-
blood, peripheral blood
-
Qi Ming
./.
1
12
c.2267C>T
-
p.Ala756Val
Substitution
-
GenBank
RET_00222
-
blood
-
Qi Ming
./.
1
13
c.2304G>?
-
p.Glu768Asp
Substitution
-
GenBank
RET_00199
-
blood
-
Qi Ming
./.
4
13
c.2307G>T
-
p.(=)
Substitution
-
GenBank
RET_00218
-
Blood
-
Qi Ming
./.
1
13
c.2307T>?
-
p.Leu769Leu
Substitution
-
GenBank
RET_00108
-
peripheral blood mononuclear cells
-
Qi Ming
./.
1
2
c.235C>T
-
p.Arg79Trp
Substitution
-
GenBank
RET_00223
-
blood
-
Qi Ming
./.
1
13
c.2370G>?
-
p.Leu790Phe
Substitution
-
GenBank
RET_00200
-
blood
-
Qi Ming
./.
1
14
c.2511C>?
-
p.Ser836Ser
Substitution
-
GenBank
RET_00109
-
peripheral blood mononuclear cells
-
Qi Ming
./.
4
15
c.2608-24G>A
-
-
Substitution
-
GenBank
RET_00220
-
blood
-
Qi Ming
./.
1
15
c.2712C>?
-
p.Ser904Ser
Substitution
-
GenBank
RET_00110
-
peripheral blood mononuclear cells
-
Qi Ming
./.
11
15
c.2712C>G
-
p.(=), p.Ser904Ser
Substitution
-
GenBank
RET_00004
81.8%, 0
blood, colonic tissue,blood, ?, Peripheral Blood, leucocytes derived from peripheral venous blood,
3 more items
-
Qi Ming
./.
1
17
c.2819T>A
-
p.(=)
Substitution
-
GenBank
RET_00225
-
blood
-
Qi Ming
./.
5
18
c.2944C>T
-
p.(=), p.Arg982Cys, p.Arg9982Cys
Substitution
-
GenBank
RET_00024
-
blood, peripheral blood
-
Qi Ming
./.
3
19
c.3185A>G
-
p.Tyr1062Cys
Substitution
-
GenBank
RET_00059
-
blood
-
Qi Ming
./.
2
02, 2
c.337+9G>A
-
-
Substitution
-
GenBank
RET_00204
-
Peripheral Blood, blood
-
Qi Ming
./.
4
3, 03
c.375C>A
-
p.(=), p.Val125Val
Substitution
-
GenBank
RET_00053
100%
blood, leucocytes derived from peripheral venous blood, unknown, Peripheral Blood
-
Qi Ming
./.
1
3
c.431G>A
-
p.Arg144His
Substitution
-
GenBank
RET_00219
-
Blood
-
Qi Ming
./.
1
4
c.809C>T
-
p.Pro270Leu
Substitution
-
GenBank
RET_00224
-
blood
-
Qi Ming
./.
1
4
c.867+16T>G
-
-
Substitution
-
GenBank
RET_00228
-
blood
-
Qi Ming
./.
1
5
c.885G>A
-
p.(=)
Substitution
-
GenBank
RET_00221
-
blood
-
Qi Ming
./.
2
00
c.?
-
-
Substitution
-
GenBank
RET_00216
-
Blood
-
Qi Ming
./.
1
01
c.37delC
-
p.Leu13CysfsX10
Deletion
-
GenBank
RET_00120
-
peripheral blood
-
Qi Ming
./.
1
01
c.59C>T
-
p.Pro20Leu
Substitution
-
GenBank
RET_00071
-
Blood
-
Qi Ming
./.
1
02
c.74-46A>G
-
-
Substitution
-
GenBank
RET_00041
-
peripheral blood
-
Qi Ming
./.
1
02
c.74-17T>G
-
-
Substitution
-
GenBank
RET_00202
-
Peripheral Blood
-
Qi Ming
./.
3
02
c.95C>T
-
p.Ser32Leu
Substitution
-
GenBank
RET_00038
-
lymphocytes, Blood, blood?
-
Qi Ming
./.
1
02
c.119T>C
-
p.Leu40Pro
Substitution
-
GenBank
RET_00102
-
blood
-
Qi Ming
./.
1
02
c.129C>G
-
p.Asp43Glu
Substitution
-
GenBank
RET_00203
-
Peripheral Blood
-
Qi Ming
./.
7
02, 2
c.135G>A
-
p.Ala45Ala
Substitution
-
GenBank
RET_00011
0.68
colonic tissue,blood, ?, blood, Peripheral Blood, unknown
-
Qi Ming
./.
1
02
c.155_158del
-
p.Tyr52SerfsX171
Deletion
-
GenBank
RET_00212
-
blood
-
Qi Ming
./.
1
02
c.166C>A
-
p.Leu56Met
Substitution
-
GenBank
RET_00107
-
?
-
Qi Ming
./.
2
02
c.191C>T
-
p.Pro64Leu
Substitution
-
GenBank
RET_00094
-
lymphocytes, Blood
-
Qi Ming
./.
2
02
c.200G>A
-
p.Arg67His
Substitution
-
GenBank
RET_00090
-
Peripheral Blood
-
Qi Ming
./.
1
02
c.229C>T
-
p.Arg77Cys
Substitution
-
GenBank
RET_00063
-
blood?
-
Qi Ming
./.
2
02
c.277G>A
-
p.Gly93Ser
Substitution
-
GenBank
RET_00072
-
blood
-
Qi Ming
./.
1
02
c.299G>T
-
p.Ser100Ile
Substitution
-
GenBank
RET_00015
-
?
-
Qi Ming
./.
4
03
c.341G>A
-
p.Arg114His
Substitution
-
GenBank
RET_00088
-
peripheral blood, Blood samples , leukocytes
-
Qi Ming
./.
1
03
c.360C>T
-
p.Thr120Thr
Substitution
-
GenBank
RET_00153
-
peripheral blood
-
Qi Ming
./.
2
03
c.406G>T
-
p.Glu136X
Substitution
-
GenBank
RET_00084, RET_00106
-
lymphocytes, Blood
-
Qi Ming
./.
1
03
c.424T>A
-
p.Cys142Ser
Substitution
-
GenBank
RET_00104
-
Blood
-
Qi Ming
./.
1
03
c.433G>C
-
p.Val145Leu
Substitution
-
GenBank
RET_00065
-
blood
-
Qi Ming
./.
1
03
c.434T>G
-
p.Val145Gly
Substitution
-
GenBank
RET_00154
-
peripheral blood
-
Qi Ming
./.
1
03
c.438C>T
-
p.Tyr146Tyr
Substitution
-
GenBank
RET_00017
-
?
-
Qi Ming
./.
1
03
c.470G>A
-
p.Cys157Tyr
Substitution
-
GenBank
RET_00108
-
?
-
Qi Ming
./.
2
03
c.521T>C
-
p.Phe174Ser
Substitution
-
GenBank
RET_00187
-
blood, intestinal specimens
-
Qi Ming
./.
2
03
c.538C>T
-
p.Arg180X
Substitution
-
GenBank
RET_00085, RET_00095
-
lymphocytes, Blood
-
Qi Ming
./.
1
03
c.539G>A
-
p.Arg180Gln
Substitution
-
GenBank
RET_00111
-
?
-
Qi Ming
./.
1
03
c.539G>C
-
p.Arg180Pro
Substitution
-
GenBank
RET_00170
-
blood
-
Qi Ming
./.
2
03
c.590G>A
-
p.Cys197Tyr
Substitution
-
GenBank
RET_00188
-
blood, intestinal specimens
-
Qi Ming
./.
1
03
c.604G>A
-
p.Val202Met
Substitution
-
GenBank
RET_00002
-
colonic tissue,blood
-
Qi Ming
./.
1
04
c.675G>C
-
p.Thr225Thr
Substitution
-
GenBank
RET_00183
-
lymphoblastoid cell
-
Qi Ming
./.
2
04
c.692G>A
-
p.Arg231His
Substitution
-
GenBank
RET_00018
-
Blood, ?
-
Qi Ming
./.
1
04
c.703G>A
-
p.Glu235Lys
Substitution
-
GenBank
RET_00112
-
?
-
Qi Ming
./.
1
04
c.751G>A
-
p.Glu251Lys
Substitution
-
GenBank
RET_00096
-
Blood
-
Qi Ming
./.
1
04
c.833C>A
-
p.Thr278Asn
Substitution
-
GenBank
RET_00019
-
?
-
Qi Ming
./.
1
04
c.844G>T
-
p.Val282Leu
Substitution
-
GenBank
RET_00070
-
blood
-
Qi Ming
./.
1
04
c.860G>A
-
p.Arg287Gln
Substitution
-
GenBank
RET_00112
-
Blood
-
Qi Ming
./.
1
05
c.874G>A
-
p.Val292Met
Substitution
-
GenBank
RET_00137
-
blood and throid tumour tissue
-
Qi Ming
./.
1
05
c.938G>A
-
p.Arg313Gln
Substitution
-
GenBank
RET_00171
-
blood
-
Qi Ming
./.
1
05
c.988C>T
-
p.Arg330Trp
Substitution
-
GenBank
RET_00113
-
?
-
Qi Ming
./.
5
05
c.989G>A
-
p.Arg330Gln
Substitution
-
GenBank
RET_00086, RET_00073
-
lymphocytes, Blood
-
Qi Ming
./.
1
05
c.991G>A
-
p.Val331Met
Substitution
-
GenBank
RET_00018
-
blood
-
Qi Ming
./.
1
05
c.1013C>T
-
p.Thr338Ile
Substitution
-
GenBank
RET_00060
-
blood
-
Qi Ming
./.
1
05
c.1063+5G>A
-
-
Substitution
-
GenBank
RET_00045
-
blood
-
Qi Ming
./.
1
05
c.1063+9G>A
-
-
Substitution
-
GenBank
RET_00113
-
blood
-
Qi Ming
./.
1
06
c.1078C>T
-
p.Arg360Trp
Substitution
-
GenBank
RET_00062
-
blood?
-
Qi Ming
./.
1
06
c.1083C>G
-
p.Asn361Lys
Substitution
-
GenBank
RET_00114
-
?
-
Qi Ming
./.
1
06
c.1094C>A
-
p.Ser365X
Substitution
-
GenBank
RET_00114
-
blood
-
Qi Ming
./.
1
06
c.1118C>T
-
p.Ala373Val
Substitution
-
GenBank
RET_00071
-
blood
-
Qi Ming
./.
1
06
c.1120delG
-
p.Val374CysfsX39
Deletion
-
GenBank
RET_00179
-
blood
-
Qi Ming
./.
2
06
c.1179C>A
-
p.Phe393Leu
Substitution
-
GenBank
RET_00087, RET_00097
-
lymphocytes, Blood
-
Qi Ming
./.
1
06
c.1182C>A
-
p.Asn394Lys
Substitution
-
GenBank
RET_00060
-
blood?
-
Qi Ming
./.
1
06
c.1182C>G
-
p.Asn394Lys
Substitution
-
GenBank
RET_00061
-
blood?
-
Qi Ming
./.
1
06
c.1196C>T
-
p.Pro399Leu
Substitution
-
GenBank
RET_00116
-
blood
-
Qi Ming
./.
1
06
c.1204delC
-
p.Leu402CysfsX11
Deletion
-
GenBank
RET_00197
-
blood
-
Qi Ming
./.
1
06
c.1263+2T>A
-
-
Substitution
-
GenBank
RET_00208
-
blood
-
Qi Ming
./.
1
07
c.1264-5C>T
-
-
Substitution
-
GenBank
RET_00177
-
blood
-
Qi Ming
./.
1
07
c.1295C>A
-
p.Ala432Glu
Substitution
-
GenBank
RET_00089
-
peripheral blood
-
Qi Ming
./.
1
07
c.1355T>C
-
p.Leu452Pro
Substitution
-
GenBank
RET_00162
-
blood
-
Qi Ming
./.
1
07
c.1405G>A
-
p.Asp469Asn
Substitution
-
GenBank
RET_00121
-
peripheral blood
-
Qi Ming
./.
1
07
c.1424G>A
-
p.Arg475Gln
Substitution
-
GenBank
RET_00117
-
Blood
-
Qi Ming
./.
1
07
c.1438G>A
-
p.Glu480Lys
Substitution
-
GenBank
RET_00005
-
colonic tissue,blood
-
Qi Ming
./.
1
07
c.1449delC
-
p.Tyr483X
Deletion
-
GenBank
RET_00158
-
peripheral blood
-
Qi Ming
./.
1
07
c.1459G>A
-
p.Ala487Thr
Substitution
-
GenBank
RET_00174
-
blood
-
Qi Ming
./.
1
07
c.1466A>G
-
p.Asp489Gly
Substitution
-
GenBank
RET_00091
-
Blood
-
Qi Ming
./.
1
08
c.1523-1G>A
-
-
Substitution
-
GenBank
RET_00176
-
blood
-
Qi Ming
./.
1
08
c.1597G>T
-
p.Gly533Cys
Substitution
-
GenBank
RET_00148
-
peripheral blood lymphocytes
-
Qi Ming
./.
1
08
c.1623T>A
-
p.Cys541X
Substitution
-
GenBank
RET_00118
-
blood
-
Qi Ming
./.
1
08
c.1643_1648+4del
-
p.Asp547GlyfsX88
Deletion
-
GenBank
RET_00161
-
peripheral blood
-
Qi Ming
./.
1
09
c.1649-11G>A
-
-
Substitution
-
GenBank
RET_00142
-
peripheral blood leukocytes
-
Qi Ming
./.
1
09
c.1673G>A
-
p.Cys558Tyr
Substitution
-
GenBank
RET_00193
-
blood lymphocytes
-
Qi Ming
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