GBP6[gene] - ClinVar

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Items: 56

	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 153948	GRCh38/hg38 1p22.2(chr1:89193991-89480531)x1	GBP4, GBP5 +2 more	Copy number loss	See cases	GLikely benign
Select item 2338468	NM_198460.3(GBP6):c.11G>T (p.Gly4Val)	GBP6 (G4V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365489	NM_198460.3(GBP6):c.31G>A (p.Val11Ile)	GBP6 (V11I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3098931	NM_198460.3(GBP6):c.72C>A (p.Asn24Lys)	GBP6 (N24K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372900	NM_198460.3(GBP6):c.131T>C (p.Val44Ala)	GBP6 (V44A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098922	NM_198460.3(GBP6):c.143G>A (p.Arg48His)	GBP6 (R48H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3280955	NM_198460.3(GBP6):c.237G>T (p.Trp79Cys)	GBP6 (W79C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098925	NM_198460.3(GBP6):c.251C>T (p.Pro84Leu)	GBP6 (P84L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383807	NM_198460.3(GBP6):c.278T>C (p.Leu93Pro)	GBP6 (L93P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268310	NM_198460.3(GBP6):c.344T>C (p.Ile115Thr)	GBP6 (I115T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3098926	NM_198460.3(GBP6):c.382T>C (p.Tyr128His)	GBP6 (Y128H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2241818	NM_198460.3(GBP6):c.437C>T (p.Thr146Met)	GBP6 (T16M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098927	NM_198460.3(GBP6):c.449A>G (p.Glu150Gly)	GBP6 (E150G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589251	NM_198460.3(GBP6):c.515T>G (p.Phe172Cys)	GBP6 (F42C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545560	NM_198460.3(GBP6):c.615G>C (p.Lys205Asn)	GBP6 (K75N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527794	NM_198460.3(GBP6):c.637A>G (p.Arg213Gly)	GBP6 (R83G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098929	NM_198460.3(GBP6):c.653A>G (p.Asn218Ser)	GBP6 (N218S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711771	NM_198460.3(GBP6):c.666G>A (p.Glu222=)	GBP6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3098930	NM_198460.3(GBP6):c.710A>T (p.Asp237Val)	GBP6 (D107V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213839	NM_198460.3(GBP6):c.712C>T (p.Arg238Trp)	GBP6 (R108W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280953	NM_198460.3(GBP6):c.734T>C (p.Leu245Pro)	GBP6 (L115P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259205	NM_198460.3(GBP6):c.761A>G (p.Glu254Gly)	GBP6 (E254G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098932	NM_198460.3(GBP6):c.776C>G (p.Pro259Arg)	GBP6 (P259R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481083	NM_198460.3(GBP6):c.778A>C (p.Lys260Gln)	GBP6 (K130Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280954	NM_198460.3(GBP6):c.821C>T (p.Thr274Ile)	GBP6 (T144I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405074	NM_198460.3(GBP6):c.905C>T (p.Ala302Val)	GBP6 (A172V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280956	NM_198460.3(GBP6):c.988G>A (p.Ala330Thr)	GBP6 (A330T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360541	NM_198460.3(GBP6):c.1150A>G (p.Met384Val)	GBP6 (M384V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2455716	NM_198460.3(GBP6):c.1177G>T (p.Asp393Tyr)	GBP6 (D263Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098919	NM_198460.3(GBP6):c.1185G>C (p.Leu395Phe)	GBP6 (L265F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098920	NM_198460.3(GBP6):c.1204T>C (p.Ser402Pro)	GBP6 (S272P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 724077	NM_198460.3(GBP6):c.1282G>T (p.Val428Phe)	GBP6 (V298F +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2322743	NM_198460.3(GBP6):c.1324A>T (p.Ile442Phe)	GBP6 (I312F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342210	NM_198460.3(GBP6):c.1364A>G (p.Lys455Arg)	GBP6 (K325R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366706	NM_198460.3(GBP6):c.1411G>C (p.Glu471Gln)	GBP6 (E471Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775567	NM_198460.3(GBP6):c.1411G>A (p.Glu471Lys)	GBP6 (E471K +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2324074	NM_198460.3(GBP6):c.1439C>A (p.Ala480Asp)	GBP6 (A480D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098923	NM_198460.3(GBP6):c.1594G>A (p.Glu532Lys)	GBP6 (E402K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098924	NM_198460.3(GBP6):c.1638T>G (p.Ile546Met)	GBP6 (I416M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593893	NM_198460.3(GBP6):c.1696A>G (p.Lys566Glu)	GBP6 (K566E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784443	NM_198460.3(GBP6):c.1717G>A (p.Ala573Thr)	GBP6 (A443T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2270318	NM_198460.3(GBP6):c.1751C>T (p.Thr584Ile)	GBP6 (T454I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605327	NM_198460.3(GBP6):c.1759A>C (p.Asn587His)	GBP6 (N457H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280952	NM_198460.3(GBP6):c.1792G>T (p.Asp598Tyr)	GBP6 (D468Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486543	NM_198460.3(GBP6):c.1794C>A (p.Asp598Glu)	GBP6 (D468E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366541	NM_198460.3(GBP6):c.1801G>A (p.Ala601Thr)	GBP6 (A601T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390587	NM_198460.3(GBP6):c.1804G>A (p.Asp602Asn)	GBP6 (D472N +1 more)	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 1527060	GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957)	MCOLN3, MIGA1 +97 more	Copy number loss	not specified	GPathogenic
Select item 686296	GRCh37/hg19 1p22.2(chr1:89546802-90520362)x1	GBP2, GBP4 +7 more	Copy number loss	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

ClinVar

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Items: 56