"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "CYBB"[gene - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1299179	NC_000023.11:g.37780009_37780013del	CYBB	Deletion	not provided	GLikely pathogenic
Select item 3026812	NM_000397.4(CYBB):c.418del (p.Ala140fs)	CYBB (A140fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 643505	NM_000397.4(CYBB):c.662T>C (p.Ile221Thr)	CYBB (I221T)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, X-linked +2 more	GUncertain significance
Select item 761350	NM_000397.4(CYBB):c.855G>A (p.Leu285=)	CYBB	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 916506	NM_000397.4(CYBB):c.1147C>T (p.Pro383Ser)	CYBB (P383S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1676152	NM_000397.4(CYBB):c.1152-2A>G	CYBB	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2571361	NM_000397.4(CYBB):c.1226C>A (p.Ala409Glu)	CYBB (A409E)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 10920	NM_000397.4(CYBB):c.1244C>A (p.Pro415His)	CYBB (P415H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 425486	NM_000397.4(CYBB):c.1249G>A (p.Ala417Thr)	CYBB (A417T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 810562	NM_000397.4(CYBB):c.1333T>C (p.Cys445Arg)	CYBB (C445R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 732210	NM_000397.4(CYBB):c.1414G>A (p.Gly472Ser)	CYBB (G472S)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, X-linked +4 more	GConflicting classifications of pathogenicity
Select item 810563	NM_000397.4(CYBB):c.1571C>T (p.Ala524Val)	CYBB (A524V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2660287	NM_000397.4(CYBB):c.1658A>G (p.Asn553Ser)	CYBB (N553S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1676193	GRCh37/hg19 Xp11.4(chrX:37639331-37670170)x0	CYBB	Copy number loss	not provided	GPathogenic
Select item 425520	GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2	AWAT2, BCLAF3 +568 more	Copy number gain	not provided	GUncertain significance