GBP2[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LOC129930966, LOC129930967 +548 more	Copy number gain	See cases	GPathogenic
Select item 2618964	NM_004120.5(GBP2):c.1756C>T (p.Pro586Ser)	GBP2 (P586S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098887	NM_004120.5(GBP2):c.1726G>A (p.Asp576Asn)	GBP2 (D576N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285149	NM_004120.5(GBP2):c.1423C>A (p.Gln475Lys)	GBP2 (Q475K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552520	NM_004120.5(GBP2):c.1378A>C (p.Lys460Gln)	GBP2 (K460Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602898	NM_004120.5(GBP2):c.1295G>A (p.Arg432His)	GBP2 (R432H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334595	NM_004120.5(GBP2):c.1277C>T (p.Ser426Phe)	GBP2 (S426F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1710091	NM_004120.5(GBP2):c.1149+14T>C	GBP2	Single nucleotide variant (intron variant)	Inherited susceptibility to mycobacterial diseases	GLikely risk allele
Select item 2404906	NM_004120.5(GBP2):c.1141A>G (p.Lys381Glu)	GBP2 (K381E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3098883	NM_004120.5(GBP2):c.1099A>G (p.Met367Val)	GBP2 (M367V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523391	NM_004120.5(GBP2):c.1000G>A (p.Glu334Lys)	GBP2 (E334K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098893	NM_004120.5(GBP2):c.973G>A (p.Ala325Thr)	GBP2 (A325T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251687	NM_004120.5(GBP2):c.845G>A (p.Gly282Asp)	GBP2 (G282D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557861	NM_004120.5(GBP2):c.721C>G (p.Pro241Ala)	GBP2 (P241A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341119	NM_004120.5(GBP2):c.718G>A (p.Ala240Thr)	GBP2 (A240T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2564587	NM_004120.5(GBP2):c.662G>A (p.Arg221Gln)	GBP2 (R221Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403313	NM_004120.5(GBP2):c.493G>A (p.Asp165Asn)	GBP2 (D165N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617918	NM_004120.5(GBP2):c.485C>T (p.Ser162Phe)	GBP2 (S162F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098892	NM_004120.5(GBP2):c.452G>A (p.Arg151Gln)	GBP2 (R151Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098891	NM_004120.5(GBP2):c.379G>A (p.Val127Met)	GBP2 (V127M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242141	NM_004120.5(GBP2):c.358A>C (p.Ile120Leu)	GBP2 (I120L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 91958	NM_004120.5(GBP2):c.321T>G (p.Gly107=)	GBP2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2638918	NM_004120.5(GBP2):c.315G>A (p.Glu105=)	GBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3098890	NM_004120.5(GBP2):c.311T>G (p.Ile104Arg)	GBP2 (I104R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098889	NM_004120.5(GBP2):c.289G>A (p.Asp97Asn)	GBP2 (D97N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534049	NM_004120.5(GBP2):c.251C>A (p.Pro84His)	GBP2 (P84H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098886	NM_004120.5(GBP2):c.155C>G (p.Ser52Cys)	GBP2, LOC122094860 (S52C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098885	NM_004120.5(GBP2):c.143G>T (p.Arg48Leu)	GBP2, LOC122094860 (R48L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098884	NM_004120.5(GBP2):c.142C>T (p.Arg48Cys)	GBP2, LOC122094860 (R48C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638919	NM_004120.5(GBP2):c.105G>A (p.Thr35=)	GBP2, LOC122094860	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638920	NM_004120.5(GBP2):c.75A>G (p.Pro25=)	GBP2, LOC122094860	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3098888	NM_004120.5(GBP2):c.22C>T (p.Pro8Ser)	GBP2, LOC122094860 (P8S)	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 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 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

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Items: 41