"Blueprint Genetics"[submitter] AND "CYBB"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 636834	NM_000397.4(CYBB):c.1152-7C>T	CYBB	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, X-linked +1 more	GConflicting classifications of pathogenicity
Select item 636980	NM_000397.4(CYBB):c.1462-1G>A	CYBB	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 975141	Single allele	CFAP47, CXorf22 +14 more	Deletion	Retinitis pigmentosa 3	GPathogenic

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