ClinVar for Gene (Select 115361) - ClinVar

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Links from Gene

Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3280942	NM_052941.5(GBP4):c.1788A>C (p.Lys596Asn)	GBP4 (K596N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280941	NM_052941.5(GBP4):c.1727A>G (p.Lys576Arg)	GBP4 (K576R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280940	NM_052941.5(GBP4):c.707G>C (p.Arg236Thr)	GBP4 (R236T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280938	NM_052941.5(GBP4):c.757C>T (p.Arg253Trp)	GBP4 (R253W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280937	NM_052941.5(GBP4):c.1879A>C (p.Lys627Gln)	GBP4 (K627Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280936	NM_052941.5(GBP4):c.1063C>G (p.Gln355Glu)	GBP4 (Q355E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280935	NM_052941.5(GBP4):c.110C>G (p.Thr37Arg)	GBP4 (T37R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280934	NM_052941.5(GBP4):c.667C>T (p.Pro223Ser)	GBP4 (P223S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098909	NM_052941.5(GBP4):c.845A>G (p.Asn282Ser)	GBP4 (N282S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098908	NM_052941.5(GBP4):c.311C>G (p.Pro104Arg)	GBP4 (P104R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098907	NM_052941.5(GBP4):c.229C>A (p.Arg77Ser)	GBP4 (R77S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098905	NM_052941.5(GBP4):c.1469T>C (p.Leu490Pro)	GBP4 (L490P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098904	NM_052941.5(GBP4):c.141C>A (p.Asp47Glu)	GBP4 (D47E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3098903	NM_052941.5(GBP4):c.1311G>C (p.Leu437Phe)	GBP4 (L437F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098902	NM_052941.5(GBP4):c.1247C>T (p.Ala416Val)	GBP4 (A416V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098901	NM_052941.5(GBP4):c.1184A>G (p.Gln395Arg)	GBP4 (Q395R)	Single nucleotide variant (missense variant)	not specified	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 2638924	NM_052941.5(GBP4):c.1038C>T (p.Ala346=)	GBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638923	NM_052941.5(GBP4):c.1248A>G (p.Ala416=)	GBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638922	NM_052941.5(GBP4):c.1821C>T (p.Leu607=)	GBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2620884	NM_052941.5(GBP4):c.358G>C (p.Glu120Gln)	GBP4 (E120Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609918	NM_052941.5(GBP4):c.851G>C (p.Cys284Ser)	GBP4 (C284S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605597	NM_052941.5(GBP4):c.298C>T (p.His100Tyr)	GBP4 (H100Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595624	NM_052941.5(GBP4):c.1298C>T (p.Thr433Ile)	GBP4 (T433I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548610	NM_052941.5(GBP4):c.1594G>C (p.Glu532Gln)	GBP4 (E532Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542999	NM_052941.5(GBP4):c.1016C>T (p.Pro339Leu)	GBP4 (P339L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486781	NM_052941.5(GBP4):c.1052A>C (p.Gln351Pro)	GBP4 (Q351P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478362	NM_052941.5(GBP4):c.974G>C (p.Cys325Ser)	GBP4 (C325S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459105	NM_052941.5(GBP4):c.1108G>A (p.Val370Met)	GBP4 (V370M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397028	NM_052941.5(GBP4):c.569A>T (p.Asp190Val)	GBP4 (D190V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397027	NM_052941.5(GBP4):c.566C>T (p.Pro189Leu)	GBP4 (P189L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394733	NM_052941.5(GBP4):c.157G>A (p.Val53Met)	GBP4 (V53M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375401	NM_052941.5(GBP4):c.1205T>C (p.Ile402Thr)	GBP4 (I402T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364679	NM_052941.5(GBP4):c.737G>A (p.Arg246Gln)	GBP4 (R246Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347135	NM_052941.5(GBP4):c.1007T>C (p.Leu336Pro)	GBP4 (L336P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336260	NM_052941.5(GBP4):c.356T>C (p.Val119Ala)	GBP4 (V119A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287373	NM_052941.5(GBP4):c.32C>T (p.Pro11Leu)	GBP4, LOC122094861 (P11L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272662	NM_052941.5(GBP4):c.7G>A (p.Glu3Lys)	GBP4, LOC122094861 (E3K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245797	NM_052941.5(GBP4):c.1004A>G (p.Gln335Arg)	GBP4 (Q335R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236971	NM_052941.5(GBP4):c.41G>T (p.Gly14Val)	GBP4 (G14V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213911	NM_052941.5(GBP4):c.731G>A (p.Arg244Gln)	GBP4 (R244Q)	Single nucleotide variant (missense variant)	not specified	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 781583	NM_052941.5(GBP4):c.886C>T (p.Leu296=)	GBP4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 686296	GRCh37/hg19 1p22.2(chr1:89546802-90520362)x1	GBP2, GBP4 +7 more	Copy number loss	not provided	GUncertain significance
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
Select item 153948	GRCh38/hg38 1p22.2(chr1:89193991-89480531)x1	GBP4, GBP5 +2 more	Copy number loss	See cases	GLikely benign
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LINC01708, LINC01709 +549 more	Copy number gain	See cases	GPathogenic

ClinVar

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Germline classification

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Links from Gene

Items: 52