CYBB[gene] and "single gene"[properties] - ClinVar - NCBI

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	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 2984361	NC_000023.11:g.37780011T>G	CYBB	Single nucleotide variant	Granulomatous disease, chronic, X-linked	GUncertain significance
Select item 1048546	NM_000397.4(CYBB):c.-65C>G	CYBB	Single nucleotide variant	Granulomatous disease, chronic, X-linked	GPathogenic
Select item 1196543	NM_000397.4(CYBB):c.1A>G (p.Met1Val)	CYBB (M1V)	Single nucleotide variant (missense variant +1 more)	Granulomatous disease, chronic, X-linked +1 more	GPathogenic
Select item 1076290	NM_000397.4(CYBB):c.3G>A (p.Met1Ile)	CYBB (M1I)	Single nucleotide variant (missense variant +1 more)	Granulomatous disease, chronic, X-linked	GPathogenic
Select item 3239486	NM_000397.4(CYBB):c.6G>T (p.Gly2=)	CYBB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2755118	NM_000397.4(CYBB):c.6G>A (p.Gly2=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 788249	NM_000397.4(CYBB):c.6G>C (p.Gly2=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GBenign
Select item 1022770	NM_000397.4(CYBB):c.8A>C (p.Asn3Thr)	CYBB (N3T)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 991388	NM_000397.4(CYBB):c.10T>A (p.Trp4Arg)	CYBB (W4R)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, X-linked	GBenign
Select item 2138517	NM_000397.4(CYBB):c.11G>A (p.Trp4Ter)	CYBB (W4*)	Single nucleotide variant (nonsense)	Granulomatous disease, chronic, X-linked	GPathogenic
Select item 1409925	NM_000397.4(CYBB):c.12G>A (p.Trp4Ter)	CYBB (W4*)	Single nucleotide variant (nonsense)	Granulomatous disease, chronic, X-linked	GPathogenic
Select item 35969	NM_000397.4(CYBB):c.15del (p.Ala5_Val6insTer)	CYBB	Deletion (frameshift variant)	Granulomatous disease, chronic, X-linked	GLikely pathogenic
Select item 2800664	NM_000397.4(CYBB):c.17T>C (p.Val6Ala)	CYBB (V6A)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, X-linked	GUncertain significance
Select item 2994136	NM_000397.4(CYBB):c.19A>C (p.Asn7His)	CYBB (N7H)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, X-linked	GUncertain significance
Select item 2781497	NM_000397.4(CYBB):c.21T>C (p.Asn7=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 279793	NM_000397.4(CYBB):c.23_26dup (p.Leu10fs)	CYBB (L10fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2196553	NM_000397.4(CYBB):c.46-14T>G	CYBB	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, X-linked	GUncertain significance
Select item 35973	NM_000397.4(CYBB):c.46-7T>C	CYBB	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1074351	NM_000397.4(CYBB):c.46-2A>T	CYBB	Single nucleotide variant (splice acceptor variant)	Granulomatous disease, chronic, X-linked	GPathogenic
Select item 1683507	NM_000397.4(CYBB):c.47T>C (p.Leu16Pro)	CYBB (L16P)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, X-linked	GUncertain significance
Select item 432965	NM_000397.4(CYBB):c.54_79del (p.Trp18fs)	CYBB (W18fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1153020	NM_000397.4(CYBB):c.51T>C (p.Val17=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 861365	NM_000397.4(CYBB):c.58G>A (p.Gly20Arg)	CYBB (G20R)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, X-linked	GPathogenic
Select item 68397	NM_000397.4(CYBB):c.58G>C (p.Gly20Arg)	CYBB (G20R)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 2909947	NM_000397.4(CYBB):c.60G>A (p.Gly20=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GBenign
Select item 1082242	NM_000397.4(CYBB):c.60G>C (p.Gly20=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 3065007	NM_000397.4(CYBB):c.62del (p.Gly20_Leu21insTer)	CYBB	Deletion (frameshift variant +1 more)	Granulomatous disease, chronic, X-linked	GUncertain significance
Select item 2293992	NM_000397.4(CYBB):c.62T>C (p.Leu21Ser)	CYBB (L21S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1678088	NM_000397.4(CYBB):c.65A>G (p.Asn22Ser)	CYBB (N22S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2431783	NM_000397.4(CYBB):c.66C>G (p.Asn22Lys)	CYBB (N22K)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, X-linked	GUncertain significance
Select item 208503	NM_000397.4(CYBB):c.66C>A (p.Asn22Lys)	CYBB (N22K)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, X-linked	GLikely pathogenic
Select item 35976	NM_000397.4(CYBB):c.66C>T (p.Asn22=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2170405	NM_000397.4(CYBB):c.67G>A (p.Val23Ile)	CYBB (V23I)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2092578	NM_000397.4(CYBB):c.75del (p.Phe26fs)	CYBB (F26fs)	Deletion (frameshift variant)	Granulomatous disease, chronic, X-linked	GPathogenic
Select item 495863	NM_000397.4(CYBB):c.80_83del (p.Val27fs)	CYBB (V27fs)	Deletion (frameshift variant)	Granulomatous disease, chronic, X-linked	GPathogenic
Select item 3079294	NM_000397.4(CYBB):c.83G>C (p.Trp28Ser)	CYBB (W28S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 419755	NM_000397.4(CYBB):c.85del (p.Tyr29fs)	CYBB (Y29fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 10940	NM_000397.4(CYBB):c.90_92delinsGGT (p.Tyr30_Arg31delinsTer)	CYBB	Indel (nonsense)	Granulomatous disease, chronic, X-linked	GPathogenic
Select item 2140468	NM_000397.4(CYBB):c.91C>T (p.Arg31Trp)	CYBB (R31W)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 1160233	NM_000397.4(CYBB):c.93G>A (p.Arg31=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 1640112	NM_000397.4(CYBB):c.99T>C (p.Tyr33=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GBenign
Select item 1934982	NM_000397.4(CYBB):c.102T>C (p.Asp34=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2811466	NM_000397.4(CYBB):c.118T>A (p.Phe40Ile)	CYBB (F40I)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, X-linked	GUncertain significance
Select item 68375	NM_000397.4(CYBB):c.121T>G (p.Tyr41Asp)	CYBB (Y41D)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 1372263	NM_000397.4(CYBB):c.123C>G (p.Tyr41Ter)	CYBB (Y41*)	Single nucleotide variant (nonsense)	Granulomatous disease, chronic, X-linked	GPathogenic
Select item 1079055	NM_000397.4(CYBB):c.123C>T (p.Tyr41=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2138519	NM_000397.4(CYBB):c.125C>G (p.Thr42Arg)	CYBB (T42R)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, X-linked	GUncertain significance
Select item 792568	NM_000397.4(CYBB):c.126A>G (p.Thr42=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 1111701	NM_000397.4(CYBB):c.129A>G (p.Arg43=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 970762	NM_000397.4(CYBB):c.141+1del	CYBB	Deletion (splice donor variant)	Granulomatous disease, chronic, X-linked	GPathogenic
Select item 1373374	NM_000397.4(CYBB):c.141+1G>C	CYBB	Single nucleotide variant (splice donor variant)	Granulomatous disease, chronic, X-linked	GPathogenic
Select item 1193508	NM_000397.4(CYBB):c.141+1G>A	CYBB	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 431813	NM_000397.4(CYBB):c.141+1G>T	CYBB	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 991389	NM_000397.4(CYBB):c.141+7A>T	CYBB	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 1540428	NM_000397.4(CYBB):c.141+14C>A	CYBB	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2976747	NM_000397.4(CYBB):c.141+18C>G	CYBB	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2914899	NM_000397.4(CYBB):c.141+20C>T	CYBB	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 1246166	NM_000397.4(CYBB):c.141+48C>G	CYBB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236584	NM_000397.4(CYBB):c.141+90C>A	CYBB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234945	NM_000397.4(CYBB):c.142-338G>T	CYBB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2741003	NM_000397.4(CYBB):c.142-19C>T	CYBB	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 1168673	NM_000397.4(CYBB):c.142-12C>T	CYBB	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, X-linked	GBenign
Select item 1559786	NM_000397.4(CYBB):c.142-11G>A	CYBB	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 1166078	NM_000397.4(CYBB):c.142-6T>C	CYBB	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, X-linked	GBenign
Select item 2184118	NM_000397.4(CYBB):c.142-5T>C	CYBB	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 450082	NM_000397.4(CYBB):c.145G>A (p.Ala49Thr)	CYBB (A49T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1139415	NM_000397.4(CYBB):c.153A>G (p.Ala51=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 1088342	NM_000397.4(CYBB):c.156G>C (p.Leu52=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 1161067	NM_000397.4(CYBB):c.159C>T (p.Ala53=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2737183	NM_000397.4(CYBB):c.160A>G (p.Arg54Gly)	CYBB (R54G)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, X-linked	GLikely pathogenic
Select item 1144066	NM_000397.4(CYBB):c.160A>C (p.Arg54=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 68387	NM_000397.4(CYBB):c.161G>T (p.Arg54Met)	CYBB (R54M)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 68388	NM_000397.4(CYBB):c.162G>C (p.Arg54Ser)	CYBB (R54S)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 68390	NM_000397.4(CYBB):c.164C>A (p.Ala55Asp)	CYBB (A55D)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 2166020	NM_000397.4(CYBB):c.169G>T (p.Ala57Ser)	CYBB (A57S)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, X-linked +1 more	GConflicting classifications of pathogenicity
Select item 68391	NM_000397.4(CYBB):c.170C>A (p.Ala57Glu)	CYBB (A57E)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1167478	NM_000397.4(CYBB):c.171A>G (p.Ala57=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GBenign
Select item 68392	NM_000397.4(CYBB):c.175T>C (p.Cys59Arg)	CYBB (C59R)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 68393	NM_000397.4(CYBB):c.177C>G (p.Cys59Trp)	CYBB (C59W)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 835972	NM_000397.4(CYBB):c.187A>C (p.Asn63His)	CYBB (N63H)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, X-linked	GUncertain significance
Select item 1012321	NM_000397.4(CYBB):c.190T>C (p.Cys64Arg)	CYBB (C64R)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, X-linked	GPathogenic
Select item 2876279	NM_000397.4(CYBB):c.195G>T (p.Met65Ile)	CYBB (M65I)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, X-linked	GUncertain significance
Select item 1674770	NM_000397.4(CYBB):c.198G>C (p.Leu66=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 1161448	NM_000397.4(CYBB):c.198G>A (p.Leu66=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2698128	NM_000397.4(CYBB):c.204C>A (p.Leu68=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 449009	NM_000397.4(CYBB):c.210dup (p.Val71fs)	CYBB (V71fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1089765	NM_000397.4(CYBB):c.213C>T (p.Val71=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 991711	NM_000397.4(CYBB):c.216T>C (p.Cys72=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GBenign
Select item 10923	NM_000397.4(CYBB):c.217C>T (p.Arg73Ter)	CYBB (R73*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 1440068	NM_000397.4(CYBB):c.218G>A (p.Arg73Gln)	CYBB (R73Q)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, X-linked	GUncertain significance
Select item 2107557	NM_000397.4(CYBB):c.228G>C (p.Leu76=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2770260	NM_000397.4(CYBB):c.231C>T (p.Ser77=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 1588824	NM_000397.4(CYBB):c.231C>G (p.Ser77=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 1594993	NM_000397.4(CYBB):c.234C>T (p.Phe78=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2034526	NM_000397.4(CYBB):c.243T>C (p.Gly81=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 945610	NM_000397.4(CYBB):c.251C>T (p.Ala84Val)	CYBB (A84V)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, X-linked	GUncertain significance
Select item 2720043	NM_000397.4(CYBB):c.252G>C (p.Ala84=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GUncertain significance
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 1066112	NM_000397.4(CYBB):c.252+5G>C	CYBB	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, X-linked	GLikely pathogenic

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