C1844376[trait identifier] AND "Center for Genomic Medicine, King Fais - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065007	NM_000397.4(CYBB):c.62del (p.Gly20_Leu21insTer)	CYBB	Deletion (frameshift variant +1 more)	Granulomatous disease, chronic, X-linked	GUncertain significance
Select item 3064418	NM_000397.4(CYBB):c.675-1157A>G	CYBB	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, X-linked	GUncertain significance
Select item 449475	NM_000397.4(CYBB):c.1618del (p.Glu540fs)	CYBB (E540fs)	Deletion (frameshift variant)	not provided +1 more	GLikely pathogenic

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