ClinVar for OMIM (Select 601763) - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 870221	NM_001354930.2(RIPK1):c.971A>T (p.Asp324Val)	RIPK1 (D324V +2 more)	Single nucleotide variant (missense variant)	Autoinflammation with episodic fever and lymphadenopathy	GPathogenic
Select item 870220	NM_001354930.2(RIPK1):c.970G>T (p.Asp324Tyr)	RIPK1 (D161Y +1 more)	Single nucleotide variant (missense variant)	Autoinflammation with episodic fever and lymphadenopathy	GPathogenic
Select item 870219	NM_001354930.2(RIPK1):c.970G>C (p.Asp324His)	RIPK1 (D324H +2 more)	Single nucleotide variant (missense variant)	Autoinflammation with episodic fever and lymphadenopathy	GPathogenic
Select item 870218	NM_001354930.2(RIPK1):c.970G>A (p.Asp324Asn)	RIPK1 (D324N +2 more)	Single nucleotide variant (missense variant)	Autoinflammation with episodic fever and lymphadenopathy	GPathogenic

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