C4747743[trait identifier] AND "Mayo Clinic Laboratories, Mayo Clinic" - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 547913	NM_001556.3(IKBKB):c.1819G>C (p.Val607Leu)	IKBKB (V607L +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to IKK2 deficiency +1 more	GUncertain significance
Select item 547914	NM_001556.3(IKBKB):c.2087A>G (p.Asn696Ser)	IKBKB (N696S +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to IKK2 deficiency	GConflicting classifications of pathogenicity