Related gene-specific medical variations for Gene (Select 1535) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243441	NC_000016.9:g.(?_88709946)_(88713408_?)del	CYBA	Deletion	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely pathogenic
Select item 3243440	NC_000016.9:g.(?_88713143)_(88717421_?)del	CYBA	Deletion	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GPathogenic
Select item 3243439	NC_000016.9:g.(?_88709761)_(88717421_?)del	CYBA	Deletion	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GPathogenic
Select item 3065668	NM_000101.4(CYBA):c.369+1G>T	CYBA	Single nucleotide variant (splice donor variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GPathogenic
Select item 989979	NM_000101.4(CYBA):c.-6G>C	CYBA	Single nucleotide variant (5 prime UTR variant)	Chronic granulomatous disease	GUncertain significance
Select item 989976	NM_000101.4(CYBA):c.415C>T (p.Arg139Trp)	CYBA (R139W)	Single nucleotide variant (missense variant)	Chronic granulomatous disease	GUncertain significance
Select item 989975	NM_000101.4(CYBA):c.422_427del (p.Arg141_Pro142del)	CYBA	Deletion (inframe_deletion)	Chronic granulomatous disease	GUncertain significance
Select item 989974	NM_000101.4(CYBA):c.515C>G (p.Ala172Gly)	CYBA (A172G)	Single nucleotide variant (missense variant)	Chronic granulomatous disease	GUncertain significance
Select item 989973	NM_000101.4(CYBA):c.516T>G (p.Ala172=)	CYBA	Single nucleotide variant (synonymous variant)	Chronic granulomatous disease	GUncertain significance
Select item 68210	NM_000101.4(CYBA):c.158A>T (p.Glu53Val)	CYBA (E53V)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 2256	NC_000016.10:g.(?_88638115)(88648115_88650955)del	CYBA	Deletion	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GPathogenic