ABL1
|
act mut
|
unknown |
gain of function |
ABL1 act mut indicates that this variant results in a gain of function in the Abl1 protein. However, the specific amino acid change has not been identified. |
|
ABL1
|
amp
|
none |
no effect |
ABL1 amplification indicates an increased number of copies of the ABL1 gene. However, the mechanism causing the increase is unspecified. |
|
ABL1
|
fusion
|
fusion |
unknown |
ABL1 fusion indicates a fusion of the ABL1 gene, but the fusion partner is unknown. |
|
ABL1
|
inact mut
|
unknown |
loss of function |
ABL1 inact mut indicates that this variant results in a loss of function of the Abl1 protein. However, the specific amino acid change has not been identified. |
|
ABL1
|
mutant
|
unknown |
unknown |
ABL1 mutant indicates an unspecified mutation in the ABL1 gene. |
|
ABL1
|
over exp
|
none |
no effect |
ABL1 over exp indicates an over expression of the Abl1 protein and/or mRNA. However, the mechanism causing the over expression is unspecified. |
|
ABL1
|
rearrange
|
unknown |
unknown |
ABL1 rearrangement indicates an unspecified rearrangement of the ABL1 gene. |
|
ABL1
|
wild-type
|
none |
no effect |
Wild-type ABL1 indicates that no mutation has been detected within the ABL1 gene. |
|
ALK
|
act mut
|
unknown |
gain of function |
ALK act mut indicates that this variant results in a gain of function in the Alk protein. However, the specific amino acid change has not been identified. |
|
ALK
|
amp
|
none |
no effect |
ALK amplification indicates an increased number of copies of the ALK gene. However, the mechanism causing the increase is unspecified. |
|
ALK
|
del exon2
|
deletion |
unknown |
ALK del exon2 indicates a deletion of exon 2 of the ALK gene. |
|
ALK
|
del exon2-19
|
deletion |
unknown |
ALK del exon2-19 indicates the deletion of exons 2-19 of the ALK gene. |
|
ALK
|
del exon3
|
deletion |
unknown |
ALK del exon3 indicates a deletion of exon 3 of the ALK gene. |
|
ALK
|
F1174X
|
missense |
unknown |
ALK F1174X indicates any Alk missense mutation that results in replacement of the phenylalanine (F) at amino acid 1174 by a different amino acid. |
|
ALK
|
F1245X
|
missense |
unknown |
ALK F1245X indicates any Alk missense mutation that results in replacement of the phenylalanine (F) at amino acid 1245 by a different amino acid. |
|
ALK
|
fusion
|
fusion |
unknown |
ALK fusion indicates a fusion of the ALK gene, but the fusion partner is unknown. |
|
ALK
|
G1202X
|
missense |
unknown |
ALK G1202X indicates any ALK missense mutation that results in replacement of the glycine (G) at amino acid 1202 by a different amino acid. |
|
ALK
|
I1171X
|
missense |
unknown |
ALK I1171X indicates any Alk missense mutation that results in replacement of the isoleucine (I) at amino acid 1171 by a different amino acid. |
|
ALK
|
inact mut
|
unknown |
loss of function |
ALK inact mut indicates that this variant results in a loss of function of the Alk protein. However, the specific amino acid change has not been identified. |
|
ALK
|
L1196X
|
missense |
unknown |
ALK L1196X indicates any Alk missense mutation that results in replacement of the leucine (L) at amino acid 1196 by a different amino acid. |
|
ALK
|
L1198X
|
missense |
unknown |
ALK L1198X indicates any Alk missense mutation that results in replacement of the leucine (L) at amino acid 1198 by a different amino acid. |
|
ALK
|
mutant
|
unknown |
unknown |
ALK mutant indicates an unspecified mutation in the ALK gene. |
|
ALK
|
negative
|
unknown |
loss of function |
ALK negative indicates a lack of expression of the ALK mRNA and/or protein. |
|
ALK
|
over exp
|
none |
no effect |
ALK over exp indicates an over expression of the Alk protein and/or mRNA. However, the mechanism causing the over expression is unspecified. |
|
ALK
|
positive
|
unknown |
unknown |
ALK positive indicates the presence of the ALK gene, mRNA, and/or protein. ALK positive has been used alternatively to refer to presence of an ALK fusion or rearrangement. For related data, refer to ALK fusion or ALK rearrange in CKB. |
|
ALK
|
R1275X
|
missense |
unknown |
ALK R1275X indicates any Alk missense mutation that results in replacement of the arginine (R) at amino acid 1275 by a different amino acid. |
|
ALK
|
rearrange
|
unknown |
unknown |
ALK rearrangement indicates an unspecified rearrangement of the ALK gene. |
|
ALK
|
V1180X
|
missense |
unknown |
ALK V1180X indicates any Alk missense mutation that results in replacement of the valine (V) at amino acid 1180 by a different amino acid. |
|
ALK
|
wild-type
|
none |
no effect |
Wild-type ALK indicates that no mutation has been detected within the ALK gene. |
|
APC
|
dec exp
|
none |
no effect |
APC dec exp indicates decreased expression of the Apc protein and/or mRNA. However, the mechanism causing the decreased expression is unspecified. |
|
APC
|
inact mut
|
unknown |
loss of function |
APC inact mut indicates that this variant results in a loss of function of the Apc protein. However, the specific amino acid change has not been identified. |
|
APC
|
LOH
|
deletion |
unknown |
APC LOH indicates the loss of one parental copy of the APC gene, resulting in loss of heterozygosity. |
|
APC
|
mutant
|
unknown |
unknown |
APC mutant indicates an unspecified mutation in the APC gene. |
|
APC
|
wild-type
|
none |
no effect |
Wild-type APC indicates that no mutation has been detected within the APC gene. |
|
ARID1A
|
amp
|
none |
no effect |
ARID1A amplification indicates an increased number of copies of the ARID1A gene. However, the mechanism causing the increase is unspecified. |
|
ARID1A
|
dec exp
|
none |
no effect |
ARID1A dec exp indicates decreased expression of the Arid1a protein. However, the mechanism causing the decreased expression is unspecified. |
|
ARID1A
|
del
|
deletion |
loss of function |
ARID1A del indicates a deletion of the ARID1A gene. |
|
ARID1A
|
inact mut
|
unknown |
loss of function |
ARID1A inact mut indicates that this variant results in a loss of function of the Arid1a protein. However, the specific amino acid change has not been identified. |
|
ARID1A
|
loss
|
unknown |
loss of function |
ARID1A loss indicates loss of the ARID1A gene, mRNA, and protein. |
|
ARID1A
|
mutant
|
unknown |
unknown |
ARID1A mutant indicates an unspecified mutation in the ARID1A gene. |
|
ARID1A
|
negative
|
unknown |
loss of function |
ARID1A negative indicates a lack of expression of the ARID1A mRNA and/or protein. |
|
ARID1A
|
wild-type
|
none |
no effect |
Wild-type ARID1A indicates that no mutation has been detected within the ARID1A gene. |
|
ATM
|
amp
|
none |
no effect |
ATM amplification indicates an increased number of copies of the ATM gene. However, the mechanism causing the increase is unspecified. |
|
ATM
|
dec exp
|
none |
no effect |
ATM dec exp indicates decreased expression of the Atm protein and/or mRNA. However, the mechanism causing the decreased expression is unspecified. |
|
ATM
|
del
|
deletion |
loss of function |
ATM del indicates a deletion of the ATM gene. |
|
ATM
|
inact mut
|
unknown |
loss of function |
ATM inact mut indicates that this variant results in a loss of function of the Atm protein. However, the specific amino acid change has not been identified. |
|
ATM
|
LOH
|
deletion |
unknown |
ATM LOH indicates the loss of one parental copy of the ATM gene, resulting in loss of heterozygosity. |
|
ATM
|
loss
|
unknown |
loss of function |
ATM loss indicates loss of the ATM gene, mRNA, and protein. |
|
ATM
|
mutant
|
unknown |
unknown |
ATM mutant indicates an unspecified mutation in the ATM gene. |
|
ATM
|
negative
|
unknown |
loss of function |
ATM negative indicates a lack of expression of the ATM mRNA and/or protein. |
|
ATM
|
over exp
|
none |
no effect |
ATM over exp indicates an over expression of the Atm protein and/or mRNA. However, the mechanism causing the over expression is unspecified. |
|
ATM
|
positive
|
unknown |
unknown |
ATM positive indicates the presence of the ATM gene, mRNA, and/or protein. |
|
ATM
|
wild-type
|
none |
no effect |
Wild-type ATM indicates that no mutation has been detected within the ATM gene. |
|
ATR
|
amp
|
none |
no effect |
ATR amplification indicates an increased number of copies of the ATR gene. However, the mechanism causing the increase is unspecified. |
|
ATR
|
dec exp
|
none |
no effect |
ATR dec exp indicates decreased expression of the Atr protein and/or mRNA. However, the mechanism causing the decreased expression is unspecified. |
|
ATR
|
del
|
deletion |
loss of function |
ATR del indicates a deletion of the ATR gene. |
|
ATR
|
inact mut
|
unknown |
loss of function |
ATR inact mut indicates that this variant results in a loss of function of the Atr protein. However, the specific amino acid change has not been identified. |
|
ATR
|
mutant
|
unknown |
unknown |
ATR mutant indicates an unspecified mutation in the ATR gene. |
|
ATR
|
over exp
|
none |
no effect |
ATR over exp indicates an over expression of the Atr protein. However, the mechanism causing the over expression is unspecified. |
|
ATR
|
positive
|
unknown |
unknown |
ATR positive indicates the presence of ATR gene, mRNA, and/or protein. |
|
ATR
|
wild-type
|
none |
no effect |
Wild-type ATR indicates that no mutation has been detected within the ATR gene. |
|
B2M
|
amp
|
none |
no effect |
B2M amplification indicates an increased number of copies of the B2M gene. However, the mechanism causing the increase is unspecified. |
|
B2M
|
del
|
deletion |
loss of function |
B2M del indicates a deletion of the B2M gene. |
|
B2M
|
inact mut
|
unknown |
loss of function |
B2M inact mut indicates that this variant results in a loss of function of the B2m protein. However, the specific amino acid change has not been identified. |
|
B2M
|
LOH
|
deletion |
unknown |
B2M LOH indicates the loss of one parental copy of the B2M gene, resulting in loss of heterozygosity. |
|
B2M
|
loss
|
unknown |
loss of function |
B2M loss indicates loss of the B2M gene, mRNA, and protein. |
|
B2M
|
mutant
|
unknown |
unknown |
B2M mutant indicates an unspecified mutation in the B2M gene. |
|
B2M
|
negative
|
unknown |
loss of function |
B2M negative indicates a lack of expression of the B2M mRNA and/or protein. |
|
B2M
|
over exp
|
none |
no effect |
B2M over exp indicates an over expression of the B2m protein. However, the mechanism causing the over expression is unspecified. |
|
B2M
|
wild-type
|
none |
no effect |
Wild-type B2M indicates that no mutation has been detected within the B2M gene. |
|
BRAF
|
A598X
|
missense |
unknown |
BRAF A598X indicates any BRAF missense mutation that results in replacement of the alanine (A) at amino acid 598 by a different amino acid. |
|
BRAF
|
act mut
|
unknown |
gain of function |
BRAF act mut indicates that this variant results in a gain of function in the Braf protein. However, the specific amino acid change has not been identified. |
|
BRAF
|
amp
|
none |
no effect |
BRAF amplification indicates an increased number of copies of the BRAF gene. However, the mechanism causing the increase is unspecified. |
|
BRAF
|
D594X
|
missense |
unknown |
BRAF D594X indicates any BRAF missense mutation that results in replacement of the aspartic acid (D) at amino acid 594 by a different amino acid. |
|
BRAF
|
dec exp
|
none |
no effect |
BRAF dec exp indicates decreased expression of the Braf protein and/or mRNA. However, the mechanism causing the decreased expression is unspecified. |
|
BRAF
|
E586X
|
missense |
unknown |
BRAF E586X indicates any BRAF missense mutation that results in replacement of the glutamic acid (E) at amino acid 586 by a different amino acid. |
|
BRAF
|
F595X
|
missense |
unknown |
BRAF F595X indicates any BRAF missense mutation that results in replacement of the phenylalanine (F) at amino acid 595 by a different amino acid. |
|
BRAF
|
fusion
|
fusion |
unknown |
BRAF fusion indicates a fusion of the BRAF gene, but the fusion partner is unknown. |
|
BRAF
|
G464X
|
missense |
unknown |
BRAF G464X indicates any BRAF missense mutation that results in replacement of the glycine (G) at amino acid 464 by a different amino acid. |
|
BRAF
|
G466X
|
missense |
unknown |
BRAF G466X indicates any BRAF missense mutation that results in replacement of the glycine (G) at amino acid 466 by a different amino acid. |
|
BRAF
|
G469X
|
missense |
unknown |
BRAF G469X indicates any BRAF missense mutation that results in replacement of the glycine (G) at amino acid 469 by a different amino acid. |
|
BRAF
|
G596X
|
missense |
unknown |
BRAF G596X indicates any BRAF missense mutation that results in replacement of the glycine (G) at amino acid 596 by a different amino acid. |
|
BRAF
|
I463X
|
missense |
unknown |
BRAF I463X indicates any BRAF missense mutation that results in replacement of the isoleucine (I) at amino acid 463 by a different amino acid. |
|
BRAF
|
inact mut
|
unknown |
loss of function |
BRAF inact mut indicates that this variant results in a loss of function of the Braf protein. However, the specific amino acid change has not been identified. |
|
BRAF
|
K601X
|
missense |
unknown |
BRAF K601X indicates any BRAF missense mutation that results in replacement of the lysine (K) at amino acid 601 by a different amino acid. |
|
BRAF
|
L485X
|
missense |
unknown |
BRAF L485X indicates any BRAF missense mutation that results in replacement of the leucine (L) at amino acid 485 by a different amino acid. |
|
BRAF
|
L597X
|
missense |
unknown |
BRAF L597X indicates any BRAF missense mutation that results in replacement of the leucine (L) at amino acid 597 by a different amino acid. |
|
BRAF
|
loss
|
unknown |
loss of function |
BRAF loss indicates loss of the BRAF gene, mRNA, and protein. |
|
BRAF
|
mutant
|
unknown |
unknown |
BRAF mutant indicates an unspecified mutation in the BRAF gene. |
|
BRAF
|
N581X
|
missense |
unknown |
BRAF N581X indicates any BRAF missense mutation that results in replacement of the asparagine (N) at amino acid 581 by a different amino acid. |
|
BRAF
|
over exp
|
none |
no effect |
BRAF over exp indicates an over expression of the Braf protein and/or mRNA. However, the mechanism causing the over expression is unspecified. |
|
BRAF
|
P367X
|
missense |
unknown |
BRAF P367X indicates any BRAF missense mutation that results in replacement of the proline (P) at amino acid 367 by a different amino acid. |
|
BRAF
|
Q257X
|
missense |
unknown |
BRAF Q257X indicates any BRAF missense mutation that results in replacement of the glutamine (Q) at amino acid 257 by a different amino acid. |
|
BRAF
|
R462X
|
missense |
unknown |
BRAF R462X indicates any BRAF missense mutation that results in replacement of the arginine (R) at amino acid 462 by a different amino acid. |
|
BRAF
|
rearrange
|
unknown |
unknown |
BRAF rearrangement indicates an unspecified rearrangement of the BRAF gene. |
|
BRAF
|
S467X
|
missense |
unknown |
BRAF S467X indicates any BRAF missense mutation that results in replacement of the serine (S) at amino acid 467 by a different amino acid. |
|
BRAF
|
T241X
|
missense |
unknown |
BRAF T241X indicates any BRAF missense mutation that results in replacement of the threonine (T) at amino acid 241 by a different amino acid. |
|
BRAF
|
T599X
|
missense |
unknown |
BRAF T599X indicates any BRAF missense mutation that results in replacement of the threonine (T) at amino acid 599 by a different amino acid. |
|
BRAF
|
V600X
|
missense |
unknown |
BRAF V600X indicates any BRAF missense mutation that results in replacement of the valine (V) at amino acid 600 by a different amino acid. BRAF V600 mutations are hotspot mutations that often result in increased Braf kinase activity (PMID: 15035987). |
|
BRAF
|
wild-type
|
none |
no effect |
Wild-type BRAF indicates that no mutation has been detected within the BRAF gene. |
|
CBL
|
act mut
|
unknown |
gain of function |
CBL act mut indicates that this variant results in a gain of function in the Cbl protein. However, the specific amino acid change has not been identified. |
|
CBL
|
dec exp
|
none |
no effect |
CBL dec exp indicates decreased expression of the Cbl protein. However, the mechanism causing the decreased expression is unspecified. |
|
CBL
|
del
|
deletion |
loss of function |
CBL del indicates a deletion of the CBL gene. |
|
CBL
|
exon8
|
unknown |
unknown |
CBL exon 8 indicates an unspecified mutation has occurred in exon 8 of the CBL gene. |
|
CBL
|
exon9
|
unknown |
unknown |
CBL exon 9 indicates an unspecified mutation has occurred in exon 9 of the CBL gene. |
|
CBL
|
inact mut
|
unknown |
loss of function |
CBL inact mut indicates that this variant results in a loss of function of the Cbl protein. However, the specific amino acid change has not been identified. |
|
CBL
|
mutant
|
unknown |
unknown |
CBL mutant indicates an unspecified mutation in the CBL gene. |
|
CBL
|
wild-type
|
none |
no effect |
Wild-type CBL indicates that no mutation has been detected within the CBL gene. |
|
CD274
|
act mut
|
unknown |
gain of function |
CD274 act mut indicates that this variant results in a gain of function in the Cd274 protein |
|
CD274
|
amp
|
none |
no effect |
CD274 amp indicates an increased number of copies of the CD274 gene. However, the mechanism causing the increase is unspecified. |
|
CD274
|
dec exp
|
none |
no effect |
CD274 dec exp indicates decreased expression of the Cd274 protein and/or mRNA. However, the mechanism causing the decreased expression is unspecified. |
|
CD274
|
inact mut
|
unknown |
loss of function |
CD274 inact mut indicates that this variant results in a loss of function of the Cd274 protein. However, the specific amino acid change has not been identified. |
|
CD274
|
mutant
|
unknown |
unknown |
CD274 mutant indicates an unspecified mutation in the CD274 gene. |
|
CD274
|
negative
|
unknown |
loss of function |
CD274 negative indicates a lack of expression of the CD274 mRNA and/or protein. |
|
CD274
|
over exp
|
none |
no effect |
CD274 over exp indicates an over expression of the Cd274 protein and/or mRNA. However, the mechanism causing the over expression is unspecified. |
|
CD274
|
positive
|
unknown |
unknown |
CD274 positive indicates the presence of the CD274 (PD-L1) mRNA and/or protein. |
|
CD274
|
rearrange
|
unknown |
unknown |
CD274 rearrange indicates an unspecified rearrangement of the CD274 gene. |
|
CDK12
|
amp
|
none |
no effect |
CDK12 amplification indicates an increased number of copies of the CDK12 gene. However, the mechanism causing the increase is unspecified. |
|
CDK12
|
dec exp
|
none |
no effect |
CDK12 dec exp indicates decreased expression of the Cdk12 protein. However, the mechanism causing the decreased expression is unspecified. |
|
CDK12
|
del
|
deletion |
loss of function |
CDK12 del indicates a deletion of the CDK12 gene. |
|
CDK12
|
inact mut
|
unknown |
loss of function |
CDK12 inact mut indicates that this variant results in a loss of function of the Cdk12 protein. However, the specific amino acid change has not been identified. |
|
CDK12
|
loss
|
unknown |
loss of function |
CDK12 loss indicates loss of the CDK12 gene, mRNA, and protein. |
|
CDK12
|
mutant
|
unknown |
unknown |
CDK12 mutant indicates an unspecified mutation in the CDK12 gene. |
|
CDK12
|
positive
|
unknown |
unknown |
CDK12 positive indicates the presence of the CDK12 gene, mRNA, and/or protein. |
|
CDK12
|
wild-type
|
none |
no effect |
Wild-type CDK12 indicates that no mutation has been detected within the CDK12 gene. |
|
CDKN2A
|
amp
|
none |
no effect |
CDKN2A amplification indicates an increased number of copies of the CDKN2A gene. However, the mechanism causing the increase is unspecified. |
|
CDKN2A
|
dec exp
|
none |
no effect |
CDKN2A dec exp indicates decreased expression of the Cdkn2a protein and/or mRNA. However, the mechanism causing the decreased expression is unspecified. |
|
CDKN2A
|
del
|
deletion |
loss of function |
CDKN2A del indicates a deletion of the CDKN2A gene. |
|
CDKN2A
|
del exon1-2
|
deletion |
unknown |
CDKN2A del exon1-2 indicates the deletion of exons 1-2 of the CDKN2A gene. |
|
CDKN2A
|
hypermethylation
|
unknown |
unknown |
CDKN2A hypermethylation indicates an increased methylation of the CDKN2A gene. However, the mechanism causing the hypermethylation is unspecified. |
|
CDKN2A
|
inact mut
|
unknown |
loss of function |
CDKN2A inact mut indicates that this variant results in a loss of function of the Cdkn2a protein. However, the specific amino acid change has not been identified. |
|
CDKN2A
|
LOH
|
deletion |
unknown |
CDKN2A LOH indicates the loss of one parental copy of the CDKN2A gene, resulting in loss of heterozygosity. |
|
CDKN2A
|
loss
|
unknown |
loss of function |
CDKN2A loss indicates loss of the CDKN2A gene, mRNA and protein. |
|
CDKN2A
|
mutant
|
unknown |
unknown |
CDKN2A mutant indicates an unspecified mutation in the CDKN2A gene. |
|
CDKN2A
|
negative
|
unknown |
loss of function |
CDKN2A negative indicates a lack of expression of the CDKN2A mRNA and/or protein. |
|
CDKN2A
|
over exp
|
none |
no effect |
CDKN2A over exp indicates an over expression of the Cdkn2a protein. However, the mechanism causing the over expression is unspecified. |
|
CDKN2A
|
positive
|
unknown |
unknown |
CDKN2A positive indicates the presence of the CDKN2A gene, mRNA, and/or protein. |
|
CDKN2A
|
rearrange
|
unknown |
unknown |
CDKN2A rearrange indicates an unspecified rearrangement of the CDKN2A gene. |
|
CDKN2A
|
wild-type
|
none |
no effect |
Wild-type CDKN2A indicates that no mutation has been detected within the CDKN2A gene. |
|
CSF3R
|
act mut
|
unknown |
gain of function |
CSF3R act mut indicates that this variant results in a gain of function in the Csf3r protein. However, the specific amino acid change has not been identified. |
|
CSF3R
|
inact mut
|
unknown |
loss of function |
CSF3R inact mut indicates that this variant results in a loss of function of the Csf3r protein. However, the specific amino acid change has not been identified. |
|
CSF3R
|
mutant
|
unknown |
unknown |
CSF3R mutant indicates an unspecified mutation in the CSF3R gene. |
|
CSF3R
|
wild-type
|
none |
no effect |
Wild-type CSF3R indicates that no mutation has been detected within the CSF3R gene. |
|
CTNNB1
|
act mut
|
unknown |
gain of function |
CTNNB1 act mut indicates that this variant results in a gain of function in the Ctnnb1 protein. However, the specific amino acid change has not been identified. |
|
CTNNB1
|
amp
|
none |
no effect |
CTNNB1 amplification indicates an increased number of copies of the CTNNB1 gene. However, the mechanism causing the increase is unspecified. |
|
CTNNB1
|
dec exp
|
none |
no effect |
CTNNB1 dec exp indicates decreased expression of the Ctnnb1 protein and/or mRNA. However, the mechanism causing the decreased expression is unspecified. |
|
CTNNB1
|
del exon3-4
|
deletion |
unknown |
CTNNB1 del exon3-4 indicates the deletion of exons 3-4 of the CTNNB1 gene. |
|
CTNNB1
|
inact mut
|
unknown |
loss of function |
CTNNB1 inact mut indicates that this variant results in a loss of function of the Ctnnb1 protein. However, the specific amino acid change has not been identified. |
|
CTNNB1
|
mutant
|
unknown |
unknown |
CTNNB1 mutant indicates an unspecified mutation in the CTNNB1 gene. |
|
CTNNB1
|
over exp
|
none |
no effect |
CTNNB1 over exp indicates an over expression of the Ctnnb1 protein and/or mRNA. However, the mechanism causing the over expression is unspecified. |
|
CTNNB1
|
wild-type
|
none |
no effect |
Wild-type CTNNB1 indicates that no mutation has been detected within the CTNNB1 gene. |
|
DNMT3A
|
act mut
|
unknown |
gain of function |
DNMT3A act mut indicates that this variant results in a gain of function in the Dnmt3a protein. However, the specific amino acid change has not been identified. |
|
DNMT3A
|
amp
|
none |
no effect |
DNMT3A amplification indicates an increased number of copies of the DNMT3A gene. However, the mechanism causing the increase is unspecified. |
|
DNMT3A
|
del
|
deletion |
loss of function |
DNMT3A del indicates a deletion of the DNMT3A gene. |
|
DNMT3A
|
inact mut
|
unknown |
loss of function |
DNMT3A inact mut indicates that this variant results in a loss of function of the Dnmt3a protein. However, the specific amino acid change has not been identified. |
|
DNMT3A
|
loss
|
unknown |
loss of function |
DNMT3A loss indicates loss of the DNMT3A gene, mRNA, and protein. |
|
DNMT3A
|
mutant
|
unknown |
unknown |
DNMT3A mutant indicates an unspecified mutation in the DNMT3A gene. |
|
DNMT3A
|
over exp
|
none |
no effect |
DNMT3A over exp indicates an over expression of the Dnmt3a protein. However, the mechanism causing the over expression is unspecified. |
|
DNMT3A
|
wild-type
|
none |
no effect |
Wild-type DNMT3A indicates that no mutation has been detected within the DNMT3A gene. |
|
EML4
|
fusion
|
fusion |
unknown |
EML4 fusion indicates a fusion of the EML4 gene, but the fusion partner is unknown. |
|
EML4
|
inact mut
|
unknown |
loss of function |
EML4 inact mut indicates that this variant results in a loss of function of the Eml4 protein. However, the specific amino acid change has not been identified. |
|
EML4
|
mutant
|
unknown |
unknown |
EML4 mutant indicates an unspecified mutation in the EML4 gene. |
|
EML4
|
wild-type
|
none |
no effect |
Wild-type EML4 indicates that no mutation has been detected within the EML4 gene. |
|
FBXW7
|
del
|
deletion |
loss of function |
FBXW7 del indicates a deletion of the FBXW7 gene. |
|
FBXW7
|
inact mut
|
unknown |
loss of function |
FBXW7 inact mut indicates that this variant results in a loss of function of the Fbxw7 protein. However, the specific amino acid change has not been identified. |
|
FBXW7
|
loss
|
unknown |
loss of function |
FBXW7 loss indicates loss of the Fbxw7 gene, mRNA, and protein. |
|
FBXW7
|
mutant
|
unknown |
unknown |
FBXW7 mutant indicates an unspecified mutation in the FBXW7 gene. |
|
FBXW7
|
positive
|
unknown |
unknown |
FBXW7 positive indicates the presence of the FBXW7 gene, mRNA, and/or protein. |
|
FBXW7
|
wild-type
|
none |
no effect |
Wild-type FBXW7 indicates that no mutation has been detected within the FBXW7 gene. |
|
FGFR1
|
act mut
|
unknown |
gain of function |
FGFR1 act mut indicates that this variant results in a gain of function in the Fgfr1 protein. However, the specific amino acid change has not been identified. |
|
FGFR1
|
amp
|
none |
no effect |
FGFR1 amplification indicates an increased number of copies of the FGFR1 gene. However, the mechanism causing the increase is unspecified. |
|
FGFR1
|
dec exp
|
none |
no effect |
FGFR1 dec exp indicates decreased expression of the Fgfr1 protein and/or mRNA. However, the mechanism causing the decreased expression is unspecified. |
|
FGFR1
|
fusion
|
fusion |
unknown |
FGFR1 fusion indicates a fusion of the FGFR1 gene, but the fusion partner is unknown. |
|
FGFR1
|
inact mut
|
unknown |
loss of function |
FGFR1 inact mut indicates that this variant results in a loss of function of the Fgfr1 protein. However, the specific amino acid change has not been identified. |
|
FGFR1
|
mutant
|
unknown |
unknown |
FGFR1 mutant indicates an unspecified mutation in the FGFR1 gene. |
|
FGFR1
|
over exp
|
none |
no effect |
FGFR1 over exp indicates an over expression of the FGFR1 protein. However, the mechanism causing the over expression is unspecified. |
|
FGFR1
|
positive
|
unknown |
unknown |
FGFR1 positive indicates the presence of the FGFR1 gene, mRNA, and/or protein. |
|
FGFR1
|
rearrange
|
unknown |
unknown |
FGFR1 rearrangement indicates an unspecified rearrangement of the FGFR1 gene. |
|
FGFR1
|
wild-type
|
none |
no effect |
Wild-type FGFR1 indicates that no mutation has been detected within the FGFR1 gene. |
|
FGFR2
|
act mut
|
unknown |
gain of function |
FGFR2 act mut indicates that this variant results in a gain of function in the Fgfr2 protein. However, the specific amino acid change has not been identified. |
|
FGFR2
|
amp
|
none |
no effect |
FGFR2 amp indicates an increased number of copies of the FGFR2 gene. However, the mechanism causing the increase is unspecified. |
|
FGFR2
|
dec exp
|
none |
no effect |
FGFR2 dec exp indicates decreased expression of the Fgfr2 protein and/or mRNA. However, the mechanism causing the decreased expression is unspecified. |
|
FGFR2
|
del exon5
|
deletion |
unknown |
FGFR2 del exon5 indicates a deletion of exon 5 of the FGFR2 gene. |
|
FGFR2
|
del exon7
|
deletion |
unknown |
FGFR2 del exon7 indicates a deletion of exon 7 of the FGFR2 gene. |
|
FGFR2
|
exon5
|
unknown |
unknown |
FGFR2 exon 5 indicates an unspecified mutation has occurred in exon 5 of the FGFR2 gene. |
|
FGFR2
|
exon7
|
unknown |
unknown |
FGFR2 exon 7 indicates an unspecified mutation has occurred in exon 7 of the FGFR2 gene. |
|
FGFR2
|
fusion
|
fusion |
unknown |
FGFR2 fusion indicates a fusion of the FGFR2 gene, but the fusion partner is unknown. |
|
FGFR2
|
inact mut
|
unknown |
loss of function |
FGFR2 inact mut indicates that this variant results in a loss of function of the Fgfr2 protein. However, the specific amino acid change has not been identified. |
|
FGFR2
|
mutant
|
unknown |
unknown |
FGFR2 mutant indicates an unspecified mutation in the FGFR2 gene. |
|
FGFR2
|
over exp
|
none |
no effect |
FGFR2 over exp indicates an over expression of the Fgfr2 protein and/or mRNA. However, the mechanism causing the over expression is unspecified. |
|
FGFR2
|
positive
|
unknown |
unknown |
FGFR2 positive indicates the presence of the FGFR2 gene, mRNA, and/or protein. |
|
FGFR2
|
rearrange
|
unknown |
unknown |
FGFR2 rearrangement indicates an unspecified rearrangement of the FGFR2 gene. |
|
FGFR2
|
wild-type
|
none |
no effect |
Wild-type FGFR2 indicates that no mutation has been detected within the FGFR2 gene. |
|
FGFR3
|
act mut
|
unknown |
gain of function |
FGFR3 act mut indicates that this variant results in a gain of function in the Fgfr3 protein. However, the specific amino acid change has not been identified. |
|
FGFR3
|
amp
|
none |
no effect |
FGFR3 amp indicates an increased number of copies of the FGFR3 gene. However, the mechanism causing the increase is unspecified. |
|
FGFR3
|
dec exp
|
none |
no effect |
FGFR3 dec exp indicates decreased expression of the Fgfr3 protein. However, the mechanism causing the decreased expression is unspecified. |
|
FGFR3
|
fusion
|
fusion |
unknown |
FGFR3 fusion indicates a fusion of the FGFR3 gene, but the fusion partner is unknown. |
|
FGFR3
|
inact mut
|
unknown |
loss of function |
FGFR3 inact mut indicates that this variant results in a loss of function of the Fgfr3 protein. However, the specific amino acid change has not been identified. |
|
FGFR3
|
mutant
|
unknown |
unknown |
FGFR3 mutant indicates an unspecified mutation in the FGFR3 gene. |
|
FGFR3
|
over exp
|
none |
no effect |
FGFR3 over exp indicates an over expression of the Fgfr3 protein. However, the mechanism causing the over expression is unspecified. |
|
FGFR3
|
positive
|
unknown |
unknown |
FGFR3 positive indicates the presence of the ESR1 gene, mRNA, and/or protein. |
|
FGFR3
|
rearrange
|
unknown |
unknown |
FGFR3 rearrangement indicates an unspecified rearrangement of the FGFR3 gene. |
|
FGFR3
|
wild-type
|
none |
no effect |
Wild-type FGFR3 indicates that no mutation has been detected within the FGFR3 gene. |
|
FLT3
|
act mut
|
unknown |
gain of function |
FLT3 act mut indicates that this variant results in a gain of function in the Flt3 protein. However, the specific amino acid change has not been identified. |
|
FLT3
|
amp
|
none |
no effect |
FLT3 amplification indicates an increased number of copies of the FLT3 gene. However, the mechanism causing the increase is unspecified. |
|
FLT3
|
exon14
|
unknown |
unknown |
FLT3 exon 14, which corresponds to the tyrosine kinase domain, indicates an unspecified mutation has occurred in exon 14 of the FLT3 gene. |
|
FLT3
|
exon15
|
unknown |
unknown |
FLT3 exon 15, which corresponds to the tyrosine kinase domain, indicates an unspecified mutation has occurred in exon 15 of the FLT3 gene. |
|
FLT3
|
exon16
|
unknown |
unknown |
FLT3 exon 16, which corresponds to the tyrosine kinase domain, indicates an unspecified mutation has occurred in exon 16 of the FLT3 gene. |
|
FLT3
|
exon17
|
unknown |
unknown |
FLT3 exon 17, which corresponds to the tyrosine kinase domain, indicates an unspecified mutation has occurred in exon 17 of the FLT3 gene. |
|
FLT3
|
exon18
|
unknown |
unknown |
FLT3 exon 18, which corresponds to the tyrosine kinase domain, indicates an unspecified mutation has occurred in exon 18 of the FLT3 gene. |
|
FLT3
|
exon19
|
unknown |
unknown |
FLT3 exon 19, which corresponds to the tyrosine kinase domain, indicates an unspecified mutation has occurred in exon 19 of the FLT3 gene. |
|
FLT3
|
exon20
|
unknown |
unknown |
FLT3 exon 20, which corresponds to the tyrosine kinase domain, indicates an unspecified mutation has occurred in exon 20 of the FLT3 gene. |
|
FLT3
|
exon21
|
unknown |
unknown |
FLT3 exon 21, which corresponds to the tyrosine kinase domain, indicates an unspecified mutation has occurred in exon 21 of the FLT3 gene. |
|
FLT3
|
exon22
|
unknown |
unknown |
FLT3 exon 22, which corresponds to the tyrosine kinase domain, indicates an unspecified mutation has occurred in exon 22 of the FLT3 gene. |
|
FLT3
|
exon23
|
unknown |
unknown |
FLT3 exon 23, which corresponds to the tyrosine kinase domain, indicates an unspecified mutation has occurred in exon 23 of the FLT3 gene. |
|
FLT3
|
fusion
|
fusion |
unknown |
FLT3 fusion indicates a fusion of the FLT3 gene, but the fusion partner is unknown. |
|
FLT3
|
I836X
|
missense |
unknown |
FLT3 I836X indicates any Flt3 missense mutation that results in the replacement of the isoleucine (I) at amino acid 836 by a different amino acid. |
|
FLT3
|
inact mut
|
unknown |
loss of function |
FLT3 inact mut indicates that this variant results in a loss of function of the Flt3 protein. However, the specific amino acid change has not been identified. |
|
FLT3
|
LOH
|
deletion |
unknown |
FLT3 LOH indicates the loss of one parental copy of the FLT3 gene, resulting in loss of heterozygosity. |
|
FLT3
|
mutant
|
unknown |
unknown |
FLT3 mutant indicates an unspecified mutation in the FLT3 gene. |
|
FLT3
|
over exp
|
none |
no effect |
FLT3 over exp indicates an over expression of the Flt3 protein and/or mRNA. However, the mechanism causing the over expression is unspecified. |
|
FLT3
|
positive
|
unknown |
unknown |
FLT3 positive indicates the presence of the FLT3 gene, mRNA, and/or protein. |
|
FLT3
|
rearrange
|
unknown |
unknown |
FLT3 rearrangement indicates an unspecified rearrangement of the FLT3 gene. |
|
FLT3
|
wild-type
|
none |
no effect |
Wild-type FLT3 indicates that no mutation has been detected within the FLT3 gene. |
|
HRAS
|
act mut
|
unknown |
unknown |
HRAS act mut indicates that the variant results in activation of HRAS downstream signaling. The mechanism causing the activation can include either loss of GTP hydrolysis activity (loss of function) or increased nucleotide exchange rate (gain of function). |
|
HRAS
|
amp
|
none |
no effect |
HRAS amplification indicates an increased number of copies of the HRAS gene. However, the mechanism causing the increase is unspecified. |
|
HRAS
|
inact mut
|
unknown |
loss of function |
HRAS inact mut indicates that the variant results in failure to activate HRAS downstream signaling. However, the specific amino acid change has not been identified. |
|
HRAS
|
mutant
|
unknown |
unknown |
HRAS mutant indicates an unspecified mutation in the HRAS gene. |
|
HRAS
|
over exp
|
none |
no effect |
HRAS over exp indicates an over expression of the Hras protein and/or mRNA. However, the mechanism causing the over expression is unspecified. |
|
HRAS
|
positive
|
unknown |
unknown |
HRAS positive indicates the presence of the HRAS gene, mRNA, and/or protein. |
|
HRAS
|
wild-type
|
none |
no effect |
Wild-type HRAS indicates that no mutation has been detected within the HRAS gene. |
|
IDH1
|
act mut
|
unknown |
gain of function |
IDH1 act mut indicates that this variant results in a gain of function in the Idh1 protein. However, the specific amino acid change has not been identified. |
|
IDH1
|
amp
|
none |
no effect |
IDH1 amp indicates an increased number of copies of the IDH1 gene. However, the mechanism causing the increase is unspecified. |
|
IDH1
|
del
|
deletion |
loss of function |
IDH1 del indicates a deletion of the IDH1 gene. |
|
IDH1
|
G97X
|
missense |
unknown |
IDH1 G97X indicates any Idh1 missense mutation that results in replacement of the glycine (G) at amino acid 97 by a different amino acid. |
|
IDH1
|
inact mut
|
unknown |
loss of function |
IDH1 inact mut indicates that this variant results in a loss of function of the Idh1 protein. However, the specific amino acid change has not been identified. |
|
IDH1
|
mutant
|
unknown |
unknown |
IDH1 mutant indicates an unspecified mutation in the IDH1 gene. |
|
IDH1
|
over exp
|
none |
no effect |
IDH1 over exp indicates an over expression of the Idh1 protein. However, the mechanism causing the over expression is unspecified. |
|
IDH1
|
R100X
|
missense |
unknown |
IDH1 R100X indicates any Idh1 missense mutation that results in replacement of the arginine (R) at amino acid 100 by a different amino acid. |
|
IDH1
|
wild-type
|
none |
no effect |
Wild-type IDH1 indicates that no mutation has been detected within the IDH1 gene. |
|
IDH1
|
Y139X
|
missense |
unknown |
IDH1 Y139X indicates any Idh1 missense mutation that results in replacement of the tyrosine (Y) at amino acid 139 by a different amino acid. |
|
IDH2
|
act mut
|
unknown |
gain of function |
IDH2 act mut indicates that this variant results in a gain of function in the Idh2 protein. However, the specific amino acid change has not been identified. |
|
IDH2
|
amp
|
none |
no effect |
IDH2 amp indicates an increased number of copies of the Idh2 gene. However, the mechanism causing the increase is unspecified. |
|
IDH2
|
del
|
deletion |
loss of function |
IDH2 del indicates a deletion of the IDH2 gene. |
|
IDH2
|
inact mut
|
unknown |
loss of function |
IDH2 inact mut indicates that this variant results in a loss of function of the Idh2 protein. However, the specific amino acid change has not been identified. |
|
IDH2
|
mutant
|
unknown |
unknown |
IDH2 mutant indicates an unspecified mutation in the IDH2 gene. |
|
IDH2
|
over exp
|
none |
no effect |
IDH2 over exp indicates an over expression of the Idh2 protein. However, the mechanism causing the over expression is unspecified. |
|
IDH2
|
wild-type
|
none |
no effect |
Wild-type IDH2 indicates that no mutation has been detected within the IDH2 gene. |
|
JAK1
|
act mut
|
unknown |
gain of function |
JAK1 act mut indicates that this variant results in a gain of function in the Jak1 protein. However, the specific amino acid change has not been identified. |
|
JAK1
|
amp
|
none |
no effect |
JAK1 amplification indicates an increased number of copies of the JAK1 gene. However, the mechanism causing the increase is unspecified. |
|
JAK1
|
dec exp
|
none |
no effect |
JAK1 dec exp indicates decreased expression of the Jak1 protein and/or mRNA. However, the mechanism causing the decreased expression is unspecified. |
|
JAK1
|
del
|
deletion |
loss of function |
JAK1 del indicates a deletion of the JAK1 gene. |
|
JAK1
|
inact mut
|
unknown |
loss of function |
JAK1 inact mut indicates that this variant results in a loss of function of the Jak1 protein. However, the specific amino acid change has not been identified. |
|
JAK1
|
mutant
|
unknown |
unknown |
JAK1 mutant indicates an unspecified mutation in the JAK1 gene. |
|
JAK1
|
positive
|
unknown |
unknown |
JAK1 positive indicates the presence of the KIT gene, mRNA, and/or protein. |
|
JAK1
|
rearrange
|
unknown |
unknown |
JAK1 rearrangement indicates an unspecified rearrangement of the JAK1 gene. |
|
JAK1
|
wild-type
|
none |
no effect |
Wild-type JAK1 indicates that no mutation has been detected within the JAK1 gene. |
|
JAK2
|
act mut
|
unknown |
gain of function |
JAK2 act mut indicates that this variant results in a gain of function in the Jak2 protein. However, the specific amino acid change has not been identified. |
|
JAK2
|
amp
|
none |
no effect |
JAK2 amp indicates an increased number of copies of the JAK2 gene. However, the mechanism causing the increase is unspecified. |
|
JAK2
|
dec exp
|
none |
no effect |
JAK2 dec exp indicates decreased expression of the Jak2 protein and/or mRNA. However, the mechanism causing the decreased expression is unspecified. |
|
JAK2
|
del
|
deletion |
loss of function |
JAK2 del indicates a deletion of the JAK2 gene. |
|
JAK2
|
exon12
|
unknown |
unknown |
JAK2 exon 12 indicates an unspecified mutation has occurred in exon 12 (amino acids 505-547) of the JAK2 gene. |
|
JAK2
|
fusion
|
fusion |
unknown |
JAK2 fusion indicates a fusion of the JAK2 gene, but the fusion partner is unknown. |
|
JAK2
|
inact mut
|
unknown |
loss of function |
JAK2 inact mut indicates that this variant results in a loss of function of the Jak2 protein. However, the specific amino acid change has not been identified. |
|
JAK2
|
LOH
|
deletion |
unknown |
JAK2 LOH indicates the loss of one parental copy of the JAK2 gene, resulting in the loss of heterozygosity. |
|
JAK2
|
loss
|
unknown |
loss of function |
JAK2 loss indicates loss of the JAK2 gene, mRNA, and protein. |
|
JAK2
|
mutant
|
unknown |
unknown |
JAK2 mutant indicates an unspecified mutation in the JAK2 gene. |
|
JAK2
|
over exp
|
none |
no effect |
JAK2 over exp indicates an over expression of the Jak2 protein. However, the mechanism causing the over expression is unspecified. |
|
JAK2
|
rearrange
|
unknown |
unknown |
JAK2 rearrange indicates an unspecified rearrangement of the JAK2 gene. |
|
JAK2
|
wild-type
|
none |
no effect |
Wild-type JAK2 indicates that no mutation has been detected within the JAK2 gene. |
|
JAK3
|
act mut
|
unknown |
gain of function |
JAK3 act mut indicates that this variant results in a gain of function in the Jak3 protein. However, the specific amino acid change has not been identified. |
|
JAK3
|
inact mut
|
unknown |
loss of function |
JAK3 inact mut indicates that this variant results in a loss of function of the Jak3 protein. However, the specific amino acid change has not been identified. |
|
JAK3
|
mutant
|
unknown |
unknown |
JAK3 mutant indicates an unspecified mutation in the JAK3 gene. |
|
JAK3
|
rearrange
|
unknown |
unknown |
JAK3 rearrangement indicates an unspecified rearrangement of the JAK3 gene. |
|
JAK3
|
wild-type
|
none |
no effect |
Wild-type JAK3 indicates that no mutation has been detected within the JAK3 gene. |
|
KEAP1
|
dec exp
|
none |
no effect |
KEAP1 dec exp indicates decreased expression of the Keap1 protein and/or mRNA. However, the mechanism causing the decreased expression is unspecified. |
|
KEAP1
|
inact mut
|
unknown |
loss of function |
KEAP1 inact mut indicates that this variant results in a loss of function of the Keap1 protein. However, the specific amino acid change has not been identified. |
|
KEAP1
|
loss
|
unknown |
loss of function |
KEAP1 loss indicates loss of the KEAP1 gene, mRNA, and protein. |
|
KEAP1
|
mutant
|
unknown |
unknown |
KEAP1 mutant indicates an unspecified mutation in the KEAP1 gene. |
|
KEAP1
|
wild-type
|
none |
no effect |
Wild-type KEAP1 indicates that no mutation has been detected within the KEAP1 gene. |
|
KIT
|
act mut
|
unknown |
gain of function |
KIT act mut indicates that this variant results in a gain of function in the Kit protein. However, the specific amino acid change has not been identified. |
|
KIT
|
amp
|
none |
no effect |
KIT amp indicates an increased number of copies of the KIT gene. However, the mechanism causing the increase is unspecified. |
|
KIT
|
D816X
|
missense |
unknown |
KIT D816X indicates any Kit missense mutation that results in the replacement of the aspartic acid (D) at amino acid 816 by a different amino acid. |
|
KIT
|
exon11
|
unknown |
unknown |
KIT exon 11 (amino acids 550-592) indicates an unspecified mutation within the juxtamembrane domain has occurred in exon 11 of the KIT gene. |
|
KIT
|
exon13
|
unknown |
unknown |
KIT exon 13 (amino acids 627-664) indicates an unspecified mutation has occurred in exon 13 of the KIT gene. |
|
KIT
|
exon14
|
unknown |
unknown |
KIT exon 14 (amino acids 664-713) indicates an unspecified mutation has occurred in exon 14 of the KIT gene. |
|
KIT
|
exon17
|
unknown |
unknown |
KIT exon 17 (amino acids 788-828) indicates an unspecified mutation has occurred in exon 17 of the KIT gene. |
|
KIT
|
exon18
|
unknown |
unknown |
KIT exon 18 (amino acids 829-866) indicates an unspecified mutation has occurred in exon 18 of the KIT gene. |
|
KIT
|
exon8
|
unknown |
unknown |
KIT exon 8 (amino acids 411-449) indicates an unspecified mutation has occurred in exon 8 of the KIT gene. |
|
KIT
|
exon9
|
unknown |
unknown |
KIT exon 9 (amino acids 449-514) indicates an unspecified mutation has occurred in exon 9 of the KIT gene. |
|
KIT
|
fusion
|
fusion |
unknown |
KIT fusion indicates a fusion of the KIT gene, but the fusion partner is unknown. |
|
KIT
|
mutant
|
unknown |
unknown |
KIT mutant indicates an unspecified mutation in the KIT gene. |
|
KIT
|
negative
|
unknown |
loss of function |
KIT negative indicates a lack of expression of the KIT mRNA and/or protein. |
|
KIT
|
over exp
|
none |
no effect |
KIT over exp indicates an over expression of the KIT protein. However, the mechanism causing the over expression is unspecified. |
|
KIT
|
positive
|
unknown |
unknown |
KIT positive indicates the presence of the KIT gene, mRNA, and/or protein. |
|
KIT
|
rearrange
|
unknown |
unknown |
KIT rearrangement indicates an unspecified rearrangement of the KIT gene. |
|
KIT
|
V559X
|
missense |
unknown |
KIT V559X indicates any Kit missense mutation that results in the replacement of the valine (V) at amino acid 559 by a different amino acid. |
|
KIT
|
wild-type
|
none |
no effect |
Wild-type KIT indicates that no mutation has been detected within the KIT gene. |
|
KMT2A
|
act mut
|
unknown |
gain of function |
KMT2A act mut indicates that this variant results in a gain of function in the Kmt2a protein. However, the specific amino acid change has not been identified. |
|
KMT2A
|
amp
|
none |
no effect |
KMT2A amplification indicates an increased number of copies of the KMT2A gene. However, the mechanism causing the increase is unspecified. |
|
KMT2A
|
fusion
|
fusion |
unknown |
KMT2A fusion indicates a fusion of the KMT2A gene, but the fusion partner is unknown. |
|
KMT2A
|
inact mut
|
unknown |
loss of function |
KMT2A inact mut indicates that this variant results in a loss of function of the Kmt2a protein. However, the specific amino acid change has not been identified. |
|
KMT2A
|
mutant
|
unknown |
unknown |
KMT2A mutant indicates an unspecified mutation in the KMT2A gene. |
|
KMT2A
|
over exp
|
none |
no effect |
KMT2A over exp indicates an over expression of the Kmt2a protein and/or mRNA. However, the mechanism causing the over expression is unspecified. |
|
KMT2A
|
positive
|
unknown |
unknown |
KMT2A positive indicates the presence of the KMT2A gene, mRNA, and/or protein. |
|
KMT2A
|
rearrange
|
unknown |
unknown |
KMT2A rearrangement indicates an unspecified rearrangement of the KMT2A gene. |
|
MAP2K1
|
act mut
|
unknown |
gain of function |
MAP2K1 act mut indicates that this variant results in a gain of function in the Map2k1 protein. However, the specific amino acid change has not been identified. |
|
MAP2K1
|
amp
|
none |
no effect |
MAP2K1 amp indicates an increased number of copies of the MAP2K1 gene. However, the mechanism causing the increase is unspecified. |
|
MAP2K1
|
fusion
|
fusion |
unknown |
MAP2K1 fusion indicates a fusion of the MAP2K1 gene, but the fusion partner is unknown. |
|
MAP2K1
|
inact mut
|
unknown |
loss of function |
MAP2K1 inact mut indicates that this variant results in a loss of function of the Map2k1 protein. However, the specific amino acid change has not been identified. |
|
MAP2K1
|
mutant
|
unknown |
unknown |
MAP2K1 mutant indicates an unspecified mutation in the MAP2K1 gene. |
|
MAP2K1
|
wild-type
|
none |
no effect |
Wild-type MAP2K1 indicates that no mutation has been detected within the MAP2K1 gene. |
|
MDM2
|
act mut
|
unknown |
gain of function |
MDM2 act mut indicates that this variant results in a gain of function in the Mdm2 protein. However, the specific amino acid change has not been identified. |
|
MDM2
|
amp
|
none |
no effect |
MDM2 amp indicates an increased number of copies of the MDM2 gene. However, the mechanism causing the increase is unspecified. |
|
MDM2
|
inact mut
|
unknown |
loss of function |
MDM2 inact mut indicates that this variant results in a loss of function of the Mdm2 protein. However, the specific amino acid change has not been identified. |
|
MDM2
|
mutant
|
unknown |
unknown |
MDM2 mutant indicates an unspecified mutation in the MDM2 gene. |
|
MDM2
|
negative
|
unknown |
loss of function |
MDM2 negative indicates a lack of expression of the MDM2 mRNA and/or protein. |
|
MDM2
|
over exp
|
none |
no effect |
MDM2 over exp indicates an over expression of the Mdm2 protein. However, the mechanism causing the over expression is unspecified. |
|
MDM2
|
positive
|
unknown |
unknown |
MDM2 positive indicates the presence of the MDM2 gene, mRNA, and/or protein. |
|
MDM2
|
wild-type
|
none |
no effect |
Wild-type MDM2 indicates that no mutation has been detected within the MDM2 gene. |
|
MLH1
|
del
|
deletion |
loss of function |
MLH1 del indicates a deletion of the MLH1 gene. |
|
MLH1
|
del exon4
|
deletion |
unknown |
MLH1 del exon4 indicates a deletion of exon 4 of the MLH1 gene. |
|
MLH1
|
del exon5
|
deletion |
unknown |
MLH1 del exon5 indicates a deletion of exon 5 of the MLH1 gene. |
|
MLH1
|
hypermethylation
|
unknown |
unknown |
MLH1 hypermethylation indicates an increased methylation of the MLH1 gene. However, the mechanism causing the hypermethylation is unspecified. |
|
MLH1
|
inact mut
|
unknown |
loss of function |
MLH1 inact mut indicates that this variant results in a loss of function of the Mlh1 protein. However, the specific amino acid change has not been identified. |
|
MLH1
|
LOH
|
deletion |
unknown |
MLH1 LOH indicates the loss of one parental copy of the MLH1 gene, resulting in loss of heterozygosity. |
|
MLH1
|
loss
|
unknown |
loss of function |
MLH1 loss indicates loss of the MLH1 gene, mRNA, and protein. |
|
MLH1
|
mutant
|
unknown |
unknown |
MLH1 mutant indicates an unspecified mutation in the MLH1 gene. |
|
MLH1
|
negative
|
unknown |
loss of function |
MLH1 negative indicates a lack of expression of the MLH1 mRNA and/or protein. |
|
MLH1
|
positive
|
unknown |
unknown |
MLH1 positive indicates the presence of the MLH1 gene, mRNA, and/or protein. |
|
MSH2
|
hypermethylation
|
unknown |
unknown |
MSH2 hypermethylation indicates an increased methylation of the MSH2 gene. However, the mechanism causing the hypermethylation is unspecified. |
|
MSH2
|
inact mut
|
unknown |
loss of function |
MSH2 inact mut indicates that this variant results in a loss of function of the Msh2 protein. However, the specific amino acid change has not been identified. |
|
MSH2
|
loss
|
unknown |
loss of function |
MSH2 loss indicates loss of the MSH2 gene, mRNA, and protein. |
|
MSH2
|
mutant
|
unknown |
unknown |
MSH2 mutant indicates an unspecified mutation in the MSH2 gene. |
|
MSH2
|
negative
|
unknown |
loss of function |
MSH2 negative indicates a lack of expression of the MSH2 mRNA and/or protein. |
|
MSH2
|
positive
|
unknown |
unknown |
MSH2 positive indicates the presence of the MSH2 gene, mRNA, and/or protein. |
|
MSH2
|
wild-type
|
none |
no effect |
Wild-type MSH2 indicates that no mutation has been detected within the MSH2 gene. |
|
MSH3
|
inact mut
|
unknown |
loss of function |
MSH3 inact mut indicates that this variant results in a loss of function of the Msh3 protein. However, the specific amino acid change has not been identified. |
|
MSH3
|
loss
|
unknown |
loss of function |
MSH3 loss indicates loss of the MSH3 gene, mRNA, and protein. |
|
MSH3
|
mutant
|
unknown |
unknown |
MSH3 mutant indicates an unspecified mutation in the MSH3 gene. |
|
MSH6
|
amp
|
none |
no effect |
MSH6 amplification indicates an increased number of copies of the MSH6 gene. However, the mechanism causing the increase is unspecified. |
|
MSH6
|
hypermethylation
|
unknown |
unknown |
MSH6 hypermethylation indicates an increased methylation of the MSH6 gene. However, the mechanism causing the hypermethylation is unspecified. |
|
MSH6
|
inact mut
|
unknown |
loss of function |
MSH6 inact mut indicates that this variant results in a loss of function of the Msh6 protein. However, the specific amino acid change has not been identified. |
|
MSH6
|
loss
|
unknown |
loss of function |
MSH6 loss indicates loss of the MSH6 gene, mRNA, and protein. |
|
MSH6
|
mutant
|
unknown |
unknown |
MSH6 mutant indicates an unspecified mutation in the MSH6 gene. |
|
MSH6
|
negative
|
unknown |
loss of function |
MSH6 negative indicates a lack of expression of the MSH6 mRNA and/or protein. |
|
MSH6
|
positive
|
unknown |
unknown |
MSH6 positive indicates the presence of the MSH6 gene, mRNA, and/or protein. |
|
NRAS
|
A146X
|
missense |
unknown |
NRAS A146X indicates any NRAS missense mutation that results in replacement of the alanine (A) at amino acid 146 by a different amino acid. |
|
NRAS
|
A59X
|
missense |
unknown |
NRAS A59X indicates any NRAS missense mutation that results in the replacement of the alanine (A) at amino acid 59 by a different amino acid. |
|
NRAS
|
act mut
|
unknown |
unknown |
NRAS act mut indicates that the variant results in activation of NRAS downstream signaling. The mechanism causing the activation can include either loss of GTP hydrolysis activity (loss of function) or increased nucleotide exchange rate (gain of function). |
|
NRAS
|
amp
|
none |
no effect |
NRAS amplification indicates an increased number of copies of the NRAS gene. However, the mechanism causing the increase is unspecified. |
|
NRAS
|
dec exp
|
none |
no effect |
NRAS dec exp indicates decreased expression of the Nras protein and/or mRNA. However, the mechanism causing the decreased expression is unspecified. |
|
NRAS
|
exon2
|
unknown |
unknown |
NRAS exon 2 indicates an unspecified mutation has occurred in exon 2 of the NRAS gene. |
|
NRAS
|
exon3
|
unknown |
unknown |
NRAS exon 3 indicates an unspecified mutation has occurred in exon 3 of the NRAS gene. |
|
NRAS
|
exon4
|
unknown |
unknown |
NRAS exon 4 indicates an unspecified mutation has occurred in exon 4 of the NRAS gene. |
|
NRAS
|
inact mut
|
unknown |
loss of function |
NRAS inact mut indicates that the variant results in failure to activate NRAS downstream signaling. However, the specific amino acid change has not been identified. |
|
NRAS
|
K117X
|
missense |
unknown |
NRAS K117X indicates any NRAS missense mutation that results in the replacement of the lysine (K) at amino acid 117 by a different amino acid. |
|
NRAS
|
mutant
|
unknown |
unknown |
NRAS mutant indicates an unspecified mutation in the NRAS gene. |
|
NRAS
|
over exp
|
none |
no effect |
NRAS over exp indicates an over expression of the Nras protein and/or mRNA. However, the mechanism causing the over expression is unspecified. |
|
NRAS
|
positive
|
unknown |
unknown |
NRAS positive indicates the presence of the NRAS gene, mRNA, and/or protein. |
|
NRAS
|
wild-type
|
none |
no effect |
Wild-type NRAS indicates that no mutation has been detected within the NRAS gene. |
|
PBRM1
|
del
|
deletion |
loss of function |
PBRM1 del indicates a deletion of the PBRM1 gene. |
|
PBRM1
|
inact mut
|
unknown |
loss of function |
PBRM1 inact mut indicates that this variant results in a loss of function of the Pbrm1 protein. However, the specific amino acid change has not been identified. |
|
PBRM1
|
loss
|
unknown |
loss of function |
PBRM1 loss indicates loss of the PBRM1 gene, mRNA, and protein. |
|
PBRM1
|
mutant
|
unknown |
unknown |
PBRM1 mutant indicates an unspecified mutation in the PBRM1 gene. |
|
PIK3CA
|
act mut
|
unknown |
gain of function |
PIK3CA act mut indicates that this variant results in a gain of function in the Pik3ca protein. However, the specific amino acid change has not been identified. |
|
PIK3CA
|
amp
|
none |
no effect |
PIK3CA amplification indicates an increased number of copies of the PIK3CA gene. However, the mechanism causing the increase is unspecified. |
|
PIK3CA
|
dec exp
|
none |
no effect |
PIK3CA dec exp indicates decreased expression of the Pik3ca protein and/or mRNA. However, the mechanism causing the decreased expression is unspecified. |
|
PIK3CA
|
E542X
|
missense |
unknown |
PIK3CA E542X indicates any Pik3ca missense mutation that results in the replacement of the glutamic acid (E) at amino acid 542 by a different amino acid. |
|
PIK3CA
|
exon10
|
unknown |
unknown |
PIK3CA exon 10 indicates an unspecified mutation has occurred in exon 10 (corresponding to amino acids 514 to 555) of the PIK3CA gene. PIK3CA exon 10 is sometimes reported as exon 9, when only coding exons are considered in numbering. |
|
PIK3CA
|
exon20
|
unknown |
unknown |
PIK3CA exon 20 indicates an unspecified mutation has occurred in exon 20 (corresponding to amino acids 929 to 979) of the PIK3CA gene. PIK3CA exon 21 (corresponding to amino acids 979 to 1068) is sometimes reported as exon 20, when only coding exons are considered in numbering. |
|
PIK3CA
|
exon21
|
unknown |
unknown |
PIK3CA exon 21 indicates an unspecified mutation has occurred in exon 21 (corresponding to amino acids 979 to 1068) of the PIK3CA gene. PIK3CA exon 21 is sometimes reported as exon 20, when only coding exons are considered in numbering. |
|
PIK3CA
|
exon5
|
unknown |
unknown |
PIK3CA exon 5 indicates an unspecified mutation has occurred in exon 5 (corresponding to amino acids 272 to 353) of the PIK3CA gene. PIK3CA exon 5 is sometimes reported as exon 4, when only coding exons are considered in numbering. |
|
PIK3CA
|
exon8
|
unknown |
unknown |
PIK3CA exon 8 indicates an unspecified mutation has occurred in exon 8 (corresponding to amino acids 418 to 468) of the PIK3CA gene. PIK3CA exon 8 is sometimes reported as exon 7, when only coding exons are considered in numbering. |
|
PIK3CA
|
exon9
|
unknown |
unknown |
PIK3CA exon 9 indicates an unspecified mutation has occurred in exon 9 (corresponding to amino acids 469 to 513) of the PIK3CA gene. PIK3CA exon 10 (corresponding to amino acids 514 to 555) is sometimes reported as exon 9, when only coding exons are considered in numbering. |
|
PIK3CA
|
inact mut
|
unknown |
loss of function |
PIK3CA inact mut indicates that this variant results in a loss of function of the Pik3ca protein. However, the specific amino acid change has not been identified. |
|
PIK3CA
|
mutant
|
unknown |
unknown |
PIK3CA mutant indicates an unspecified mutation within the PIK3CA gene. |
|
PIK3CA
|
over exp
|
none |
no effect |
PIK3CA over exp indicates an over expression of the Pik3ca protein and/or mRNA. However, the mechanism causing the over expression is unspecified. |
|
PIK3CA
|
positive
|
unknown |
unknown |
PIK3CA positive indicates the presence of the PIK3CA gene, mRNA and/or protein. |
|
PIK3CA
|
Q546X
|
missense |
unknown |
PIK3CA Q546X indicates any PIK3CA missense mutation that results in replacement of the glutamine (Q) at amino acid 546 by a different amino acid. |
|
PIK3CA
|
wild-type
|
none |
no effect |
Wild-type PIK3CA indicates that no mutation has been detected within the PIK3CA gene. |
|
PMS2
|
hypermethylation
|
unknown |
unknown |
PMS2 hypermethylation indicates an increased methylation of the PMS2 gene. However, the mechanism causing the hypermethylation is unspecified. |
|
PMS2
|
inact mut
|
unknown |
loss of function |
PMS2 inact mut indicates that this variant results in a loss of function of the Pms2 protein. However, the specific amino acid change has not been identified. |
|
PMS2
|
loss
|
unknown |
loss of function |
PMS2 loss indicates loss of the PMS2 gene, mRNA, and protein. |
|
PMS2
|
mutant
|
unknown |
unknown |
PMS2 mutant indicates an unspecified mutation in the PMS2 gene. |
|
PMS2
|
negative
|
unknown |
loss of function |
PMS2 negative indicates a lack of the PMS2 gene, mRNA, and/or protein. |
|
PMS2
|
positive
|
unknown |
unknown |
PMS2 positive indicates the presence of the PMS2 gene, mRNA, and/or protein. |
|
POLD1
|
inact mut
|
unknown |
loss of function |
POLD1 inact mut indicates that this variant results in a loss of function of the Pold1 protein. However, the specific amino acid change has not been identified. |
|
POLD1
|
mutant
|
unknown |
unknown |
POLD1 mutant indicates an unspecified mutation in the POLD1 gene. |
|
POLE
|
inact mut
|
unknown |
loss of function |
POLE inact mut indicates that this variant results in a loss of function of the Pole protein. However, the specific amino acid change has not been identified. |
|
POLE
|
mutant
|
unknown |
unknown |
POLE mutant indicates an unspecified mutation in the POLE gene. |
|
POLE
|
wild-type
|
none |
no effect |
Wild-type POLE indicates that no mutation has been detected within the POLE gene. |
|
PTEN
|
dec exp
|
none |
no effect |
PTEN dec exp indicates decreased expression of the Pten protein and/or mRNA. However, the mechanism causing the decreased expression is unspecified. |
|
PTEN
|
del
|
deletion |
loss of function |
PTEN del indicates a deletion of the PTEN gene. |
|
PTEN
|
fusion
|
fusion |
unknown |
PTEN fusion indicates a fusion of the PTEN gene, but the fusion partner is unknown. |
|
PTEN
|
inact mut
|
unknown |
loss of function |
PTEN inact mut indicates that this variant results in a loss of function of the Pten protein. However, the specific amino acid change has not been identified. |
|
PTEN
|
LOH
|
deletion |
unknown |
PTEN LOH indicates the loss of one parental copy of the PTEN gene, resulting in loss of heterozygosity. |
|
PTEN
|
loss
|
unknown |
loss of function |
PTEN loss indicates a loss of the PTEN gene, mRNA, and protein, which leads to suppression of Ar-dependent gene expression (PMID: 21620777), epithelial-mesenchymal transition in cell culture (PMID: 20032390), and promotes KRAS-dependent tumor formation (PMID: 20807812), and decreased apoptosis and increased cell survival in a mouse model (PMID: 12782594). PTEN loss has been identified in a number of cancers (PMID: 30738865), including prostate cancer (PMID: 29460925) and glioblastoma (PMID: 9331071). |
|
PTEN
|
mutant
|
unknown |
unknown |
PTEN mutant indicates an unspecified mutation in the PTEN gene. |
|
PTEN
|
negative
|
unknown |
loss of function |
PTEN negative indicates a lack of the PTEN gene, mRNA, and/or protein. |
|
PTEN
|
over exp
|
none |
no effect |
PTEN over exp indicates an over expression of the Pten protein. However, the mechanism causing the over expression is unspecified. |
|
PTEN
|
positive
|
unknown |
unknown |
PTEN positive indicates the presence of the PTEN gene, mRNA, and/or protein. |
|
PTEN
|
wild-type
|
none |
no effect |
Wild-type PTEN indicates that no mutation has been detected within the PTEN gene. |
|
RB1
|
dec exp
|
none |
no effect |
RB1 dec exp indicates decreased expression of the Rb1 protein and/or mRNA. However, the mechanism causing the decrease is unspecified. |
|
RB1
|
del
|
deletion |
loss of function |
RB1 del indicates a deletion of the RB1 gene. |
|
RB1
|
inact mut
|
unknown |
loss of function |
RB1 inact mut indicates that this variant results in a loss of function of the Rb1 protein. However, the specific amino acid change has not been identified. |
|
RB1
|
loss
|
unknown |
loss of function |
RB1 loss indicates loss of the RB1 gene, mRNA, and protein. |
|
RB1
|
mutant
|
unknown |
unknown |
RB1 mutant indicates an unspecified mutation in the RB1 gene. |
|
RB1
|
negative
|
unknown |
loss of function |
RB1 negative indicates a lack of the RB1 gene, mRNA, and/or protein. |
|
RB1
|
positive
|
unknown |
unknown |
RB1 positive indicates the presence of the RB1 gene, mRNA, and/or protein. |
|
RB1
|
wild-type
|
none |
no effect |
Wild-type RB1 indicates that no mutations have been detected within the RB1 gene. |
|
RET
|
A883X
|
missense |
unknown |
RET A883X indicates any Ret missense mutation that results in replacement of the alanine (A) at amino acid 883 by a different amino acid. |
|
RET
|
act mut
|
unknown |
gain of function |
RET act mut indicates that this variant results in a gain of function in the Ret protein. However the specific amino acid change has not been identified. |
|
RET
|
amp
|
none |
no effect |
RET amp indicates an increased number of copies of the RET gene. However, the mechanism causing the increase is unspecified. |
|
RET
|
C609X
|
missense |
unknown |
RET C609X indicates any Ret missense mutation that results in replacement of the cysteine (C) at amino acid 609 by a different amino acid. |
|
RET
|
C611X
|
missense |
unknown |
RET C611X indicates any Ret missense mutation that results in replacement of the cysteine (C) at amino acid 611 by a different amino acid. |
|
RET
|
C618X
|
missense |
unknown |
RET C618X indicates any Ret missense mutation that results in replacement of the cysteine (C) at amino acid 618 by a different amino acid. |
|
RET
|
C620X
|
missense |
unknown |
RET C620X indicates any Ret missense mutation that results in replacement of the cysteine (C) at amino acid 620 by a different amino acid. |
|
RET
|
C630X
|
missense |
unknown |
RET C630X indicates any Ret missense mutation that results in replacement of the cysteine (C) at amino acid 630 by a different amino acid. |
|
RET
|
C634X
|
missense |
unknown |
RET C634X indicates any Ret missense mutation that results in replacement of the cysteine (C) at amino acid 634 by a different amino acid. |
|
RET
|
E768X
|
missense |
unknown |
RET E768X indicates any Ret missense mutation that results in replacement of the glutamic acid (E) at amino acid 768 by a different amino acid. |
|
RET
|
fusion
|
fusion |
unknown |
RET fusion indicates a fusion of the RET gene, but the fusion partner is unknown. |
|
RET
|
inact mut
|
unknown |
loss of function |
RET inact mut indicates that this variant results in a loss of function of the Ret protein. However, the specific amino acid change has not been identified. |
|
RET
|
L790X
|
missense |
unknown |
RET L790X indicates any Ret missense mutation that results in replacement of the leucine (L) at amino acid 790 by a different amino acid. |
|
RET
|
M918X
|
missense |
unknown |
RET M918X indicates any Ret missense mutation that results in replacement of the methionine (M) at amino acid 918 by a different amino acid. |
|
RET
|
mutant
|
unknown |
unknown |
RET mutant indicates an unspecified mutation in the RET gene. |
|
RET
|
over exp
|
none |
no effect |
RET over exp indicates an over expression of the Ret protein. However, the mechanism causing the over expression is unspecified. |
|
RET
|
positive
|
unknown |
unknown |
RET positive indicates the presence of the RET gene, mRNA, and/or protein. |
|
RET
|
rearrange
|
unknown |
unknown |
RET rearrangement indicates an unspecified rearrangement of the RET gene. |
|
RET
|
S891X
|
missense |
unknown |
RET S891X indicates any Ret missense mutation that results in replacement of the serine (S) at amino acid 891 by a different amino acid. |
|
RET
|
V804X
|
missense |
unknown |
RET V804X indicates any Ret missense mutation that results in replacement of the valine (V) at amino acid 804 by a different amino acid. |
|
RET
|
wild-type
|
none |
no effect |
Wild-type RET indicates that no mutation has been detected within the RET gene. |
|
RET
|
Y791X
|
missense |
unknown |
RET Y791X indicates any Ret missense mutation that results in replacement of the tyrosine (Y) at amino acid 791 by a different amino acid. |
|
ROS1
|
act mut
|
unknown |
gain of function |
ROS1 act mut indicates that this variant results in a gain of function in the Ros1 protein. However, the specific amino acid change has not been identified. |
|
ROS1
|
amp
|
none |
no effect |
ROS1 amplification indicates an increased number of copies of the ROS1 gene. However, the mechanism causing the increase is unspecified. |
|
ROS1
|
dec exp
|
none |
no effect |
ROS1 dec exp indicates decreased expression of the Ros1 protein and/or mRNA. However, the mechanism causing the decreased expression is unspecified. |
|
ROS1
|
del
|
deletion |
loss of function |
ROS1 del indicates a deletion of the ROS1 gene. |
|
ROS1
|
fusion
|
fusion |
unknown |
ROS1 fusion indicates a fusion of the ROS1 gene, but the fusion partner is unknown. |
|
ROS1
|
inact mut
|
unknown |
loss of function |
ROS1 inact mut indicates that this variant results in a loss of function of the Ros1 protein. However, the specific amino acid change has not been identified. |
|
ROS1
|
mutant
|
unknown |
unknown |
ROS1 mutant indicates an unspecified mutation in the ROS1 gene. |
|
ROS1
|
negative
|
unknown |
loss of function |
ROS1 negative indicates a lack of the ROS1 gene, mRNA, and/or protein. |
|
ROS1
|
positive
|
unknown |
unknown |
ROS1 positive indicates the presence of the ROS1 gene, mRNA, and/or protein. ROS1 positive has been used alternatively to refer to presence of a ROS1 fusion or rearrangement. For related data, refer to ROS1 fusion or ROS1 rearrange in CKB. |
|
ROS1
|
rearrange
|
unknown |
unknown |
ROS1 rearrange indicates an unspecified rearrangement of the ROS1 gene. |
|
ROS1
|
wild-type
|
none |
no effect |
Wild-type ROS1 indicates that no mutation has been detected within the ROS1 gene. |
|
STK11
|
amp
|
none |
no effect |
STK11 amplification indicates an increased number of copies of the STK11 gene. However, the mechanism causing the increase is unspecified. |
|
STK11
|
dec exp
|
none |
no effect |
STK11 dec exp indicates decreased expression of the Stk11 protein and/or mRNA. However, the mechanism causing the decreased expression is unspecified |
|
STK11
|
del
|
deletion |
loss of function |
STK11 del indicates a deletion of the STK11 gene. |
|
STK11
|
inact mut
|
unknown |
loss of function |
STK11 inact mut indicates that this variant results in a loss of function of the Stk11 protein. However, the specific amino acid change has not been identified. |
|
STK11
|
loss
|
unknown |
loss of function |
STK11 loss indicates loss of the STK11 gene, mRNA, and protein. |
|
STK11
|
mutant
|
unknown |
unknown |
STK11 mutant indicates an unspecified mutation in the STK11 gene. |
|
STK11
|
negative
|
unknown |
loss of function |
STK11 negative indicates a lack of the STK11 gene, mRNA, and/or protein |
|
STK11
|
wild-type
|
none |
no effect |
Wild-type STK11 indicates that no mutation has been detected within the STK11 gene. |
|
TET2
|
del
|
deletion |
loss of function |
TET2 del indicates a deletion of the TET2 gene. |
|
TET2
|
inact mut
|
unknown |
loss of function |
TET2 inact mut indicates that this variant results in a loss of Tet2 protein function. However, the specific amino acid change has not been identified. |
|
TET2
|
loss
|
unknown |
loss of function |
TET2 loss indicates loss of the TET2 gene, mRNA, and protein. |
|
TET2
|
mutant
|
unknown |
unknown |
TET2 mutant indicates an unspecified mutation in the TET2 gene. |
|
TET2
|
wild-type
|
none |
no effect |
Wild-type TET2 indicates that no mutations have been detected within the TET2 gene. |
|
TP53
|
act mut
|
unknown |
gain of function |
TP53 act mut indicates that this variant results in a gain of function in the Tp53 protein. However, the specific amino acid change has not been identified. |
|
TP53
|
amp
|
none |
no effect |
TP53 amp indicates an increased number of copies of the TP53 gene. However, the mechanism causing the increase is unspecified. |
|
TP53
|
dec exp
|
none |
no effect |
TP53 dec exp indicates decreased expression of the Tp53 protein. However, the mechanism causing the decreased expression is unspecified. |
|
TP53
|
del
|
deletion |
loss of function |
TP53 del indicates a deletion of the TP53 gene. |
|
TP53
|
exon10
|
unknown |
unknown |
TP53 exon 10 indicates an unspecified mutation has occurred in exon 10 of the TP53 gene. |
|
TP53
|
exon11
|
unknown |
unknown |
TP53 exon 11 indicates an unspecified mutation has occurred in exon 11 of the TP53 gene. |
|
TP53
|
exon2
|
unknown |
unknown |
TP53 exon 2 indicates an unspecified mutation has occurred in exon 2 of the TP53 gene. |
|
TP53
|
exon4
|
unknown |
unknown |
TP53 exon 4 indicates an unspecified mutation has occurred in exon 4 of the TP53 gene. |
|
TP53
|
exon5
|
unknown |
unknown |
TP53 exon 5 indicates an unspecified mutation has occurred in exon 5 of the TP53 gene. |
|
TP53
|
exon6
|
unknown |
unknown |
TP53 exon 6 indicates an unspecified mutation has occurred in exon 6 of the TP53 gene. |
|
TP53
|
exon7
|
unknown |
unknown |
TP53 exon 7 indicates an unspecified mutation has occurred in exon 7 of the TP53 gene. |
|
TP53
|
exon8
|
unknown |
unknown |
TP53 exon 8 indicates an unspecified mutation has occurred in exon 8 of the TP53 gene. |
|
TP53
|
exon9
|
unknown |
unknown |
TP53 exon 9 indicates an unspecified mutation has occurred in exon 9 of the TP53 gene. |
|
TP53
|
inact mut
|
unknown |
loss of function |
TP53 inact mut indicates that this variant results in a loss of function of the Tp53 protein. However, the specific amino acid change has not been identified. |
|
TP53
|
loss
|
unknown |
loss of function |
TP53 loss indicates loss of the TP53 gene, mRNA, and protein. |
|
TP53
|
mutant
|
unknown |
unknown |
TP53 mutant indicates an unspecified mutation within the TP53 gene. |
|
TP53
|
negative
|
unknown |
loss of function |
TP53 negative indicates a lack of the TP53 gene, mRNA, and/or protein. |
|
TP53
|
over exp
|
none |
no effect |
TP53 over exp indicates an over expression of the Tp53 protein. However, the mechanism causing the over expression is unspecified. |
|
TP53
|
positive
|
unknown |
unknown |
TP53 positive indicates the presence of the TP53 gene, mRNA, and/or protein. |
|
TP53
|
R175X
|
missense |
unknown |
TP53 R175X indicates a hotspot mutation resulting in an amino acid change at codon 175 of the Tp53 protein, which often results in a loss of Tp53 protein function. |
|
TP53
|
R273X
|
missense |
unknown |
TP53 R273X indicates a hotspot mutation resulting in an amino acid change at codon 273 of the Tp53 protein, which often results in a loss of Tp53 protein function. |
|
TP53
|
wild-type
|
none |
no effect |
Wild-type TP53 indicates that no mutation has been detected within the TP53 gene. |
|
VHL
|
amp
|
none |
no effect |
VHL amplification indicates an increased number of copies of the VHL gene. However, the mechanism causing the increase is unspecified. |
|
VHL
|
del
|
deletion |
loss of function |
VHL del indicates a deletion of the VHL gene. |
|
VHL
|
inact mut
|
unknown |
loss of function |
VHL inact mut indicates that this variant results in a loss of function of the Vhl protein. However, the specific amino acid change has not been identified. |
|
VHL
|
loss
|
unknown |
loss of function |
VHL loss indicates loss of the VHL gene, mRNA and protein. |
|
VHL
|
mutant
|
unknown |
unknown |
VHL mutant indicates an unspecified mutation in the VHL gene. |
|
VHL
|
negative
|
unknown |
loss of function |
VHL negative indicates a lack of the VHL gene, mRNA, and/or protein. |
|
VHL
|
over exp
|
none |
no effect |
VHL over exp indicates an over expression of the Vhl protein. However, the mechanism causing the over expression is unspecified. |
|
VHL
|
wild-type
|
none |
no effect |
Wild-type VHL indicates that no mutation has been detected within the VHL gene. |
|