"Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan"[submitte - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1172927	NM_000101.4(CYBA):c.*49T>C	CYBA	Single nucleotide variant (3 prime UTR variant)	not specified +2 more	GBenign
Select item 1166946	NM_000101.4(CYBA):c.*24G>A	CYBA	Single nucleotide variant (3 prime UTR variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative +2 more	GBenign
Select item 198042	NM_000101.4(CYBA):c.521T>C (p.Val174Ala)	CYBA (V174A)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 2688174	NM_000101.4(CYBA):c.369+1058T>C	CYBA	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2263	NM_000101.4(CYBA):c.214T>C (p.Tyr72His)	CYBA (Y72H)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 1172931	NM_000101.4(CYBA):c.203+36C>T	CYBA	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 196207	NM_000101.4(CYBA):c.203+8T>C	CYBA	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1172932	NM_000101.4(CYBA):c.59-37G>A	CYBA	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1168658	NM_000101.4(CYBA):c.36A>G (p.Glu12=)	CYBA	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign

ClinVar