Related gene-specific medical variations for Gene (Select 1536) - ClinVar

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Links from Gene

Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3064418	NM_000397.4(CYBB):c.675-1157A>G	CYBB	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, X-linked	GUncertain significance
Select item 3016891	NM_000397.4(CYBB):c.32C>T (p.Ser11Phe)	CYBB, LOC130068093 (S11F)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, X-linked	GUncertain significance
Select item 2954663	NM_000397.4(CYBB):c.45+20A>G	CYBB, LOC130068093	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2822743	NM_000397.4(CYBB):c.33C>T (p.Ser11=)	CYBB, LOC130068093	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2809900	NM_000397.4(CYBB):c.39T>C (p.Phe13=)	CYBB, LOC130068093	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2748450	NM_000397.4(CYBB):c.45+8C>T	CYBB, LOC130068093	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2737182	NM_000397.4(CYBB):c.45+1G>T	LOC130068093, CYBB	Single nucleotide variant (splice donor variant)	Granulomatous disease, chronic, X-linked	GPathogenic
Select item 2584605	NM_000397.4(CYBB):c.728T>C (p.Val243Ala)	CYBB (V243A)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, X-linked +1 more	GUncertain significance
Select item 2138518	NM_000397.4(CYBB):c.40del (p.Val14fs)	CYBB, LOC130068093 (V14fs)	Deletion (frameshift variant)	Granulomatous disease, chronic, X-linked	GPathogenic
Select item 2124686	NM_000397.4(CYBB):c.45+2dup	CYBB, LOC130068093	Duplication (splice donor variant)	Granulomatous disease, chronic, X-linked	GPathogenic
Select item 1946325	NM_000397.4(CYBB):c.27G>A (p.Gly9=)	CYBB, LOC130068093	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 1589277	NM_000397.4(CYBB):c.45+18A>G	CYBB, LOC130068093	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 1161805	NM_000397.4(CYBB):c.45+9C>G	CYBB, LOC130068093	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 1149798	NM_000397.4(CYBB):c.43A>G (p.Ile15Val)	CYBB, LOC130068093 (I15V)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 1142727	NM_000397.4(CYBB):c.42C>A (p.Val14=)	CYBB, LOC130068093	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 1139511	NM_000397.4(CYBB):c.30C>A (p.Leu10=)	CYBB, LOC130068093	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 1026196	NM_000397.4(CYBB):c.45+3A>C	CYBB, LOC130068093	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, X-linked	GUncertain significance
Select item 1020228	NM_000397.4(CYBB):c.43A>T (p.Ile15Phe)	CYBB, LOC130068093 (I15F)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, X-linked	GUncertain significance
Select item 993603	NM_000397.4(CYBB):c.809G>A (p.Trp270Ter)	CYBB (W270*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 991714	NM_000397.4(CYBB):c.674+1081G>A	CYBB	Single nucleotide variant (intron variant)	Chronic granulomatous disease	GUncertain significance
Select item 991712	NM_000397.4(CYBB):c.328C>T (p.Leu110Phe)	CYBB (L110F)	Single nucleotide variant (missense variant)	Chronic granulomatous disease	GUncertain significance
Select item 750157	NM_000397.4(CYBB):c.27G>T (p.Gly9=)	CYBB, LOC130068093	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 726829	NM_000397.4(CYBB):c.30C>T (p.Leu10=)	CYBB, LOC130068093	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GBenign
Select item 664743	NM_000397.4(CYBB):c.45+2del	CYBB, LOC130068093	Deletion (splice donor variant)	Granulomatous disease, chronic, X-linked	GLikely pathogenic
Select item 636980	NM_000397.4(CYBB):c.1462-1G>A	CYBB	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 533560	NM_000397.4(CYBB):c.37_45+2del	CYBB, LOC130068093	Deletion (splice donor variant)	Granulomatous disease, chronic, X-linked	GPathogenic
Select item 191245	NM_000397.4(CYBB):c.34A>C (p.Ile12Leu)	CYBB, LOC130068093 (I12L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 68414	NM_000397.4(CYBB):c.973A>T (p.Ile325Phe)	CYBB (I325F)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 68411	NM_000397.4(CYBB):c.919A>C (p.Thr307Pro)	CYBB (T307P)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 68410	NM_000397.4(CYBB):c.731G>A (p.Cys244Tyr)	CYBB (C244Y)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 68409	NM_000397.4(CYBB):c.730T>C (p.Cys244Arg)	CYBB (C244R)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 68407	NM_000397.4(CYBB):c.674A>T (p.Glu225Val)	CYBB (E225V)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 68406	NM_000397.4(CYBB):c.671C>G (p.Ala224Gly)	CYBB (A224G)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 68405	NM_000397.4(CYBB):c.668G>T (p.Gly223Val)	CYBB (G223V)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 68404	NM_000397.4(CYBB):c.667G>T (p.Gly223Ter)	CYBB (G223*)	Single nucleotide variant (nonsense)	not provided	Gnot provided
Select item 68402	NM_000397.4(CYBB):c.664C>T (p.His222Tyr)	CYBB (H222Y)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 68401	NM_000397.4(CYBB):c.664C>A (p.His222Asn)	CYBB (H222N)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 68400	NM_000397.4(CYBB):c.627T>A (p.His209Gln)	CYBB (H209Q)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 68398	NM_000397.4(CYBB):c.613T>A (p.Phe205Ile)	CYBB (F205I)	Single nucleotide variant (missense variant)	not provided	Gnot provided
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 68396	NM_000397.4(CYBB):c.578C>T (p.Ser193Phe)	CYBB (S193F)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 68395	NM_000397.4(CYBB):c.535G>A (p.Gly179Arg)	CYBB (G179R)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 68394	NM_000397.4(CYBB):c.356A>G (p.His119Arg)	CYBB (H119R)	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 68392	NM_000397.4(CYBB):c.175T>C (p.Cys59Arg)	CYBB (C59R)	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 68388	NM_000397.4(CYBB):c.162G>C (p.Arg54Ser)	CYBB (R54S)	Single nucleotide variant (missense variant)	not provided	Gnot provided
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 68384	NM_000397.4(CYBB):c.1548G>T (p.Trp516Cys)	CYBB (W516C)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 68383	NM_000397.4(CYBB):c.1546T>C (p.Trp516Arg)	CYBB (W516R)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 68382	NM_000397.4(CYBB):c.1514T>G (p.Leu505Arg)	CYBB (L505R)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 68381	NM_000397.4(CYBB):c.1357T>C (p.Trp453Arg)	CYBB (W453R)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 68380	NM_000397.4(CYBB):c.1264T>C (p.Ser422Pro)	CYBB (S422P)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 68379	NM_000397.4(CYBB):c.1259T>C (p.Leu420Pro)	CYBB (L420P)	Single nucleotide variant (missense variant)	not provided	Gnot provided
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 68374	NM_000397.4(CYBB):c.1214T>G (p.Met405Arg)	CYBB (M405R)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 68373	NM_000397.4(CYBB):c.1166G>A (p.Gly389Glu)	CYBB (G389E)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 68371	NM_000397.4(CYBB):c.1067G>C (p.Arg356Pro)	CYBB (R356P)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 68370	NM_000397.4(CYBB):c.1031C>T (p.Ser344Phe)	CYBB (S344F)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 68369	NM_000397.4(CYBB):c.1025T>A (p.Leu342Gln)	CYBB (L342Q)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 10939	NM_000397.4(CYBB):c.45+6T>C	CYBB, LOC130068093	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, X-linked	GPathogenic
Select item 10938	NG_009065.1:g.16964_16965insLINE1	CYBB	Insertion	Granulomatous disease, chronic, X-linked	GPathogenic
Select item 10934	NM_000397.4:c.484-262_484-261insLINE1	CYBB	Insertion	Granulomatous disease, chronic, X-linked	GPathogenic

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Links from Gene

Items: 64