ClinVar for OMIM (Select 600664) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3233307	NM_003954.5(MAP3K14):c.1694C>G (p.Pro565Arg)	MAP3K14	Single nucleotide variant (missense variant)	Immunodeficiency 112	GPathogenic
Select item 843423	NM_003954.5(MAP3K14):c.1033G>A (p.Val345Met)	MAP3K14 (V345M)	Single nucleotide variant (missense variant)	NIK deficiency	GUncertain significance
Select item 102445	NM_001556.3(IKBKB):c.1292dup (p.Gln432fs)	IKBKB (Q432fs +2 more)	Duplication (frameshift variant +1 more)	IKBKB-related disorder	GPathogenic

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