"OMIM"[submitter] AND "CEBPE"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1705852	NM_001805.4(CEBPE):c.742_747del (p.Ser248_Arg249del)	CEBPE	Deletion (inframe_indel +1 more)	Specific granule deficiency 1	GPathogenic
Select item 1705854	NM_001805.4(CEBPE):c.655_665del (p.Lys220fs)	CEBPE (K220fs)	Deletion (frameshift variant)	Specific granule deficiency 1	GPathogenic
Select item 1705850	NM_001805.4(CEBPE):c.656G>A (p.Arg219His)	CEBPE	Single nucleotide variant (missense variant)	Pelger-Huet-like anomaly and episodic fever with abdominal pain	GPathogenic
Select item 982783	NM_001805.4(CEBPE):c.653T>C (p.Val218Ala)	CEBPE (V218A)	Single nucleotide variant (missense variant)	Specific granule deficiency 1	GLikely pathogenic
Select item 8855	NM_001805.4(CEBPE):c.509dup (p.Ala171fs)	CEBPE (A171fs)	Duplication (frameshift variant)	Specific granule deficiency 1	GPathogenic
Select item 1705853	NM_001805.4(CEBPE):c.403C>T (p.Arg135Ter)	CEBPE	Single nucleotide variant (nonsense)	Specific granule deficiency	GPathogenic
Select item 8854	NM_001805.4(CEBPE):c.249_253del (p.Asp84fs)	CEBPE (D84fs)	Deletion (frameshift variant)	Specific granule deficiency 1	GPathogenic

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