GBP1[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LINC01708, LINC01709 +549 more	Copy number gain	See cases	GPathogenic
Select item 3280924	NM_002053.3(GBP1):c.1757G>A (p.Arg586Gln)	GBP1 (R586Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604180	NM_002053.3(GBP1):c.1748T>C (p.Met583Thr)	GBP1 (M583T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232949	NM_002053.3(GBP1):c.1721A>C (p.Asn574Thr)	GBP1 (N574T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1320035	NM_002053.3(GBP1):c.1665+30_1665+35del	GBP1	Deletion (intron variant)	Neutrophil inclusion bodies	GLikely pathogenic
Select item 3280925	NM_002053.3(GBP1):c.1646C>A (p.Thr549Asn)	GBP1 (T549N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402110	NM_002053.3(GBP1):c.1630A>G (p.Lys544Glu)	GBP1 (K544E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3098877	NM_002053.3(GBP1):c.1610A>G (p.Asn537Ser)	GBP1 (N537S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287725	NM_002053.3(GBP1):c.1523A>G (p.Glu508Gly)	GBP1 (E508G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098876	NM_002053.3(GBP1):c.1492T>A (p.Ser498Thr)	GBP1 (S498T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242331	NM_002053.3(GBP1):c.1379T>C (p.Ile460Thr)	GBP1 (I460T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618633	NM_002053.3(GBP1):c.1363A>G (p.Ile455Val)	GBP1 (I455V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396674	NM_002053.3(GBP1):c.1309G>A (p.Val437Ile)	GBP1 (V437I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2286639	NM_002053.3(GBP1):c.1295G>A (p.Gly432Asp)	GBP1 (G432D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297323	NM_002053.3(GBP1):c.1294G>C (p.Gly432Arg)	GBP1 (G432R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263433	NM_002053.3(GBP1):c.1229T>C (p.Leu410Ser)	GBP1, LOC126805784 (L410S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098875	NM_002053.3(GBP1):c.1175G>A (p.Arg392Gln)	GBP1, LOC126805784 (R392Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455384	NM_002053.3(GBP1):c.1172A>G (p.Lys391Arg)	GBP1, LOC126805784 (K391R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456965	NM_002053.3(GBP1):c.1167A>C (p.Glu389Asp)	GBP1, LOC126805784 (E389D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2489128	NM_002053.3(GBP1):c.1154C>T (p.Ala385Val)	GBP1, LOC126805784 (A385V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511570	NM_002053.3(GBP1):c.1073G>C (p.Arg358Thr)	GBP1, LOC126805784 (R358T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519514	NM_002053.3(GBP1):c.1009C>G (p.Gln337Glu)	GBP1, LOC126805784 (Q337E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098882	NM_002053.3(GBP1):c.991G>T (p.Ala331Ser)	GBP1, LOC126805784 (A331S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268897	NM_002053.3(GBP1):c.908C>T (p.Ala303Val)	GBP1, LOC126805784 (A303V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280927	NM_002053.3(GBP1):c.907G>A (p.Ala303Thr)	GBP1, LOC126805784 (A303T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098881	NM_002053.3(GBP1):c.887T>C (p.Leu296Pro)	GBP1, LOC126805784 (L296P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280929	NM_002053.3(GBP1):c.871C>T (p.Pro291Ser)	GBP1 (P291S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223109	NM_002053.3(GBP1):c.785T>C (p.Phe262Ser)	GBP1 (F262S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455387	NM_002053.3(GBP1):c.747G>C (p.Gln249His)	GBP1 (Q249H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465747	NM_002053.3(GBP1):c.730C>T (p.Arg244Cys)	GBP1 (R244C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280926	NM_002053.3(GBP1):c.610T>C (p.Tyr204His)	GBP1 (Y204H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244761	NM_002053.3(GBP1):c.597T>G (p.Asp199Glu)	GBP1 (D199E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549664	NM_002053.3(GBP1):c.592C>A (p.Pro198Thr)	GBP1 (P198T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098878	NM_002053.3(GBP1):c.458G>A (p.Arg153Gln)	GBP1 (R153Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493009	NM_002053.3(GBP1):c.379G>A (p.Val127Met)	GBP1 (V127M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408188	NM_002053.3(GBP1):c.349G>A (p.Ala117Thr)	GBP1 (A117T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067180	NM_002053.3(GBP1):c.348C>T (p.Phe116=)	GBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2327171	NM_002053.3(GBP1):c.311T>C (p.Val104Ala)	GBP1 (V104A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409248	NM_002053.3(GBP1):c.298G>A (p.Gly100Ser)	GBP1 (G100S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638917	NM_002053.3(GBP1):c.264G>A (p.Lys88=)	GBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2479302	NM_002053.3(GBP1):c.137T>C (p.Leu46Pro)	GBP1 (L46P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402957	NM_002053.3(GBP1):c.71A>T (p.Asn24Ile)	GBP1 (N24I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098879	NM_002053.3(GBP1):c.68C>T (p.Ala23Val)	GBP1 (A23V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2520332	NM_002053.3(GBP1):c.35G>A (p.Cys12Tyr)	GBP1 (C12Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373058	NM_002053.3(GBP1):c.31A>G (p.Met11Val)	GBP1 (M11V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2519401	NM_002053.3(GBP1):c.20T>C (p.Met7Thr)	GBP1 (M7T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2685809	GRCh37/hg19 1p22.2(chr1:88895486-91863052)x3	BARHL2, GBP1 +16 more	Copy number gain	not provided	GUncertain significance
Select item 2685499	GRCh37/hg19 1p22.3-22.2(chr1:87511398-90730302)x1	GBP1, GBP2 +15 more	Copy number loss	not provided	GUncertain significance
Select item 1527060	GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957)	MCOLN3, MIGA1 +97 more	Copy number loss	not specified	GPathogenic
Select item 685792	GRCh37/hg19 1p22.2(chr1:89239549-89733747)x3	GBP1, GBP2 +8 more	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441908	GRCh37/hg19 1p31.1-22.1(chr1:72044544-92505091)x1	ACADM, ADGRL2 +80 more	Copy number loss	See cases	GPathogenic

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Items: 54