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Items: 53

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130004500, LOC130004501
+821 more
Copy number gain
See cases
GPathogenic
EDRF1-AS1, EDRF1-DT
+1036 more
Copy number gain
See cases
GPathogenic
GSTO1, GSTO2
+1097 more
Copy number gain
See cases
GPathogenic
LOC124416905, LOC124416906
+318 more
Copy number loss
See cases
GPathogenic
ABLIM1, ACSL5
+308 more
Copy number loss
See cases
GPathogenic
LOC126861107, LOC128598885
+802 more
Copy number gain
See cases
GPathogenic
DUSP5, DUSP5-DT
+34 more
Copy number gain
See cases
GUncertain significance
DUSP5, LOC130004716
(P30S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DUSP5, LOC130004716
(N38Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DUSP5
(L47F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DUSP5
(L47P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DUSP5
(A55S)
Single nucleotide variant
(missense variant)
not provided
GBenign
DUSP5
(R56P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DUSP5
(S61W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DUSP5
(Y64C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DUSP5
(D68E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DUSP5
(E78V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DUSP5, LOC130004717
(R94C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DUSP5
(E130Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DUSP5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DUSP5
(V143I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DUSP5
(P164R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DUSP5
(C197W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DUSP5
(I273L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DUSP5
(R285H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DUSP5
(D291N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DUSP5
Single nucleotide variant
(synonymous variant)
not provided
GBenign
DUSP5
(M349I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DUSP5
(S359L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DUSP5
(P363L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DUSP5
(S368L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCC2, ABLIM1
+293 more
Copy number gain
not specified
GPathogenic
ABLIM1, ACSL5
+70 more
Copy number gain
not specified
GLikely pathogenic
ABLIM1, ABRAXAS2
+117 more
Copy number gain
not provided
GPathogenic
ABLIM1, ABRAXAS2
+145 more
Copy number gain
Distal trisomy 10q
GPathogenic
ADRA2A, BBIP1
+7 more
Copy number gain
RASopathy
GUncertain significance
AGAP5, CRTAC1
+682 more
Copy number gain
Distal trisomy 10q
GPathogenic
ABRAXAS2, CHCHD1
+673 more
Copy number loss
Distal 10q deletion syndrome
GPathogenic
ADD3, ADRA2A
+8 more
Duplication
Cornelia de Lange syndrome 3
GUncertain significance
ABLIM1, ABRAXAS2
+146 more
Copy number gain
not specified
GPathogenic
C10orf95, CALHM1
+57 more
Copy number loss
not specified
GPathogenic
ADD3, DUSP5
+4 more
Duplication
not provided
GUncertain significance
ABLIM1, ACSL5
+32 more
Copy number loss
not provided
GUncertain significance
ABLIM1, ABRAXAS2
+146 more
Copy number gain
not provided
GPathogenic
ABCC2, ABLIM1
+298 more
Copy number gain
not provided
GPathogenic
ABLIM1, ABRAXAS2
+157 more
Copy number gain
not provided
GPathogenic
COX15, CPEB3
+569 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
ABLIM1, ABRAXAS2
+151 more
Copy number gain
See cases
GPathogenic
ABCC2, ABLIM1
+305 more
Copy number gain
See cases
GPathogenic
INA, INPP5A
+721 more
Copy number gain
See cases
GPathogenic
A1CF, ABCC2
+721 more
Copy number gain
See cases
GPathogenic
A1CF, ABCC2
+722 more
Copy number gain
See cases
GPathogenic
ABLIM1, ABRAXAS2
+201 more
Copy number gain
See cases
GPathogenic
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