"Revvity Omics, Revvity"[submitter] AND "CYBB"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 10923	NM_000397.4(CYBB):c.217C>T (p.Arg73Ter)	CYBB (R73*)	Single nucleotide variant (nonsense)	Granulomatous disease, chronic, X-linked +2 more	GPathogenic
Select item 10933	NM_000397.4(CYBB):c.252G>A (p.Ala84=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked +2 more	GPathogenic
Select item 10929	NM_000397.4(CYBB):c.676C>T (p.Arg226Ter)	CYBB (R226*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic

Format

Sort by

Choose Destination