ClinVar for Gene (Select 2635) - ClinVar

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Links from Gene

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3098900	NM_018284.3(GBP3):c.968C>T (p.Ser323Leu)	GBP3 (S244L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098899	NM_018284.3(GBP3):c.757G>C (p.Asp253His)	GBP3 (D174H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098897	NM_018284.3(GBP3):c.352C>G (p.Leu118Val)	GBP3 (L118V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3098896	NM_018284.3(GBP3):c.1670G>T (p.Arg557Leu)	GBP3 (R478L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098895	NM_018284.3(GBP3):c.1563T>A (p.Ser521Arg)	GBP3 (S494R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098894	NM_018284.3(GBP3):c.1009A>G (p.Met337Val)	GBP3 (M337V +2 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 2638916	NM_018284.3(GBP3):c.1742T>C (p.Leu581Pro)	GBP3 (L447P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2613632	NM_018284.3(GBP3):c.664C>T (p.Leu222Phe)	GBP3 (L143F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544457	NM_018284.3(GBP3):c.710A>G (p.Asp237Gly)	GBP3 (D158G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541678	NM_018284.3(GBP3):c.973G>A (p.Ala325Thr)	GBP3 (A246T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539109	NM_018284.3(GBP3):c.118G>A (p.Val40Met)	GBP3 (V40M)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2530860	NM_018284.3(GBP3):c.205T>C (p.Ser69Pro)	GBP3 (S69P)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2516615	NM_018284.3(GBP3):c.960A>G (p.Ile320Met)	GBP3 (I186M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412216	NM_018284.3(GBP3):c.725G>A (p.Arg242His)	GBP3 (R108H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401693	NM_018284.3(GBP3):c.1748A>T (p.Lys583Ile)	GBP3 (K449I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387890	NM_018284.3(GBP3):c.1161C>A (p.Asp387Glu)	GBP3 (D308E +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2360050	NM_018284.3(GBP3):c.674G>A (p.Arg225Gln)	GBP3 (R91Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2359707	NM_018284.3(GBP3):c.29C>T (p.Pro10Leu)	GBP3 (P10L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2359479	NM_018284.3(GBP3):c.1551G>C (p.Glu517Asp)	GBP3 (E490D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359077	NM_018284.3(GBP3):c.931G>A (p.Glu311Lys)	GBP3 (E177K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357143	NM_018284.3(GBP3):c.1268G>A (p.Gly423Glu)	GBP3 (G289E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336208	NM_018284.3(GBP3):c.1472G>A (p.Cys491Tyr)	GBP3 (C357Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291060	NM_018284.3(GBP3):c.794C>T (p.Ala265Val)	GBP3 (A186V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286673	NM_018284.3(GBP3):c.598C>G (p.Leu200Val)	GBP3 (L121V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255209	NM_018284.3(GBP3):c.47A>C (p.Asn16Thr)	GBP3 (N16T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2227514	NM_018284.3(GBP3):c.131T>C (p.Val44Ala)	GBP3 (V44A)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2223700	NM_018284.3(GBP3):c.142C>T (p.Arg48Cys)	GBP3 (R48C)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2219270	NM_018284.3(GBP3):c.319G>A (p.Gly107Ser)	GBP3 (G28S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2211591	NM_018284.3(GBP3):c.724C>T (p.Arg242Cys)	GBP3 (R108C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1527060	GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957)	MCOLN3, MIGA1 +97 more	Copy number loss	not specified	GPathogenic
Select item 979897	GRCh37/hg19 1p31.1-22.2(chr1:80804502-89490384)x3	LMO4, CLCA4 +33 more	Copy number gain	not provided	GLikely pathogenic
Select item 814106	GRCh37/hg19 1p22.2(chr1:89018909-89483015)x3	GBP3, PKN2 +3 more	Copy number gain	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	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 565120	GRCh37/hg19 1p22.2(chr1:88840026-89512154)x3	PKN2, GBP3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +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 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LOC129930966, LOC129930967 +548 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 41