ClinVar for OMIM (Select 606416) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Format

Sort by

Choose Destination

Links from OMIM

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 252559	NM_001184900.3(CARD8):c.130G>A (p.Val44Ile)	CARD8 (V44I)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance