ClinVar for OMIM (Select 300248) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 254126	NM_138348.6(OTULIN):c.731A>G (p.Tyr244Cys)	OTULIN (Y244C)	Single nucleotide variant (missense variant)	Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection +1 more	GPathogenic; risk factor
Select item 102445	NM_001556.3(IKBKB):c.1292dup (p.Gln432fs)	IKBKB (Q432fs +2 more)	Duplication (frameshift variant +1 more)	IKBKB-related disorder +1 more	GPathogenic