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Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CEBPA
Duplication
(nonsense)
not provided
GPathogenic
CEBPA
Insertion
(inframe_indel)
not provided
GLikely pathogenic
CEBPA
Insertion
(inframe_insertion)
not provided
GPathogenic
CEBPA
(Q192* +3 more)
Single nucleotide variant
(nonsense)
Acute myeloid leukemia
+1 more
GConflicting classifications of pathogenicity
CEBPA
(R167G +3 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
CEBPA
(G131fs +3 more)
Duplication
(frameshift variant)
not provided
GLikely pathogenic
CEBPA
(H100fs +3 more)
Insertion
(frameshift variant)
not provided
GLikely pathogenic
CEBPA
(L132fs +3 more)
Duplication
(frameshift variant)
not provided
GPathogenic
CEBPA
(G109* +3 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
CEBPA
(A111fs +2 more)
Deletion
(5 prime UTR variant +1 more)
not provided
+1 more
GPathogenic
CEBPA
(Q118fs +2 more)
Duplication
(5 prime UTR variant +1 more)
not provided
GLikely pathogenic
CEBPA
(Q118fs +2 more)
Deletion
(frameshift variant +1 more)
Acute myeloid leukemia
+1 more
GPathogenic/Likely pathogenic
CEBPA
Deletion
(5 prime UTR variant +1 more)
not provided
GLikely pathogenic
CEBPA
(E45* +2 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Acute myeloid leukemia
+1 more
GPathogenic
CEBPA
(P32fs +2 more)
Deletion
(5 prime UTR variant +1 more)
not provided
GPathogenic
CEBPA
(H24fs +2 more)
Duplication
(frameshift variant +1 more)
not provided
+1 more
GPathogenic
CEBPA, LOC130064183
Indel
(5 prime UTR variant +2 more)
not provided
GPathogenic
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