ClinVar for Gene (Select 115362) - ClinVar

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Links from Gene

Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3280951	NM_052942.5(GBP5):c.172C>A (p.Leu58Met)	GBP5 (L58M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280949	NM_052942.5(GBP5):c.1339C>T (p.Arg447Trp)	GBP5 (R447W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280948	NM_052942.5(GBP5):c.1442C>A (p.Thr481Lys)	GBP5 (T481K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3280947	NM_052942.5(GBP5):c.32T>A (p.Met11Lys)	GBP5 (M11K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280946	NM_052942.5(GBP5):c.383A>G (p.Tyr128Cys)	GBP5 (Y128C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280945	NM_052942.5(GBP5):c.1118A>C (p.Asp373Ala)	GBP5 (D373A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280944	NM_052942.5(GBP5):c.27C>A (p.Asp9Glu)	GBP5 (D9E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3280943	NM_052942.5(GBP5):c.1303A>G (p.Ile435Val)	GBP5 (I435V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098918	NM_052942.5(GBP5):c.535A>G (p.Thr179Ala)	GBP5 (T179A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098917	NM_052942.5(GBP5):c.520C>T (p.Pro174Ser)	GBP5 (P174S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098916	NM_052942.5(GBP5):c.418G>A (p.Asp140Asn)	GBP5 (D140N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098915	NM_052942.5(GBP5):c.1750G>A (p.Val584Ile)	GBP5 (V584I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3098914	NM_052942.5(GBP5):c.1582C>G (p.Gln528Glu)	GBP5 (Q528E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098913	NM_052942.5(GBP5):c.1542G>A (p.Met514Ile)	GBP5 (M514I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098912	NM_052942.5(GBP5):c.1448C>T (p.Thr483Met)	GBP5 (T483M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098910	NM_052942.5(GBP5):c.119T>C (p.Val40Ala)	GBP5 (V40A)	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 2638925	NM_052942.5(GBP5):c.1737C>T (p.Asn579=)	GBP5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2597404	NM_052942.5(GBP5):c.1352A>G (p.Lys451Arg)	GBP5 (K451R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568681	NM_052942.5(GBP5):c.1514C>T (p.Ala505Val)	GBP5 (A505V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553494	NM_052942.5(GBP5):c.890C>T (p.Thr297Ile)	GBP5 (T297I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545613	NM_052942.5(GBP5):c.589G>C (p.Asp197His)	GBP5 (D197H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544788	NM_052942.5(GBP5):c.161T>G (p.Leu54Arg)	GBP5 (L54R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535159	NM_052942.5(GBP5):c.1455A>C (p.Lys485Asn)	GBP5 (K485N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524156	NM_052942.5(GBP5):c.698G>A (p.Cys233Tyr)	GBP5 (C233Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461413	NM_052942.5(GBP5):c.1424A>C (p.Gln475Pro)	GBP5 (Q475P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410853	NM_052942.5(GBP5):c.844G>C (p.Gly282Arg)	GBP5 (G282R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400563	NM_052942.5(GBP5):c.1496C>T (p.Ala499Val)	GBP5 (A499V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375351	NM_052942.5(GBP5):c.1342G>A (p.Glu448Lys)	GBP5 (E448K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356740	NM_052942.5(GBP5):c.511A>C (p.Ser171Arg)	GBP5 (S171R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356137	NM_052942.5(GBP5):c.1739A>G (p.Asp580Gly)	GBP5 (D485G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354207	NM_052942.5(GBP5):c.209C>T (p.Thr70Met)	GBP5 (T70M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342187	NM_052942.5(GBP5):c.1509G>C (p.Arg503Ser)	GBP5 (R503S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312048	NM_052942.5(GBP5):c.812T>C (p.Ile271Thr)	GBP5 (I271T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292917	NM_052942.5(GBP5):c.1187G>A (p.Arg396Gln)	GBP5 (R396Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2246717	NM_052942.5(GBP5):c.1244C>T (p.Pro415Leu)	GBP5 (P415L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246539	NM_052942.5(GBP5):c.848G>T (p.Gly283Val)	GBP5 (G283V)	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 982609	NM_052942.5(GBP5):c.502_505dup (p.Ser169Ter)	GBP5 (S169*)	Duplication (nonsense)	Neurodevelopmental disorder	GUncertain significance
Select item 784442	NM_052942.5(GBP5):c.703A>G (p.Ile235Val)	GBP5 (I235V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 777924	NM_052942.5(GBP5):c.158A>T (p.Tyr53Phe)	GBP5 (Y53F)	Single nucleotide variant (missense 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
Select item 92020	NM_052942.5(GBP5):c.1745C>T (p.Pro582Leu)	GBP5 (P582L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar

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Links from Gene

Items: 51