XRN2[gene] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	ABHD12, ACSS1 +833 more	Copy number gain	See cases	GPathogenic
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	LOC126863004, LOC126863005 +814 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC130065574, LOC130065575 +950 more	Copy number gain	See cases	GPathogenic
Select item 146116	GRCh38/hg38 20p12.1-11.22(chr20:17772771-21426789)x1	CFAP61, CFAP61-AS1 +117 more	Copy number loss	See cases	GPathogenic
Select item 2476777	NM_012255.5(XRN2):c.457G>C (p.Glu153Gln)	XRN2 (E153Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300868	NM_012255.5(XRN2):c.523C>T (p.Arg175Cys)	XRN2 (R253C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536920	NM_012255.5(XRN2):c.542G>A (p.Arg181His)	XRN2 (R181H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337274	NM_012255.5(XRN2):c.674C>T (p.Thr225Ile)	XRN2 (T225I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297703	NM_012255.5(XRN2):c.709A>G (p.Ile237Val)	XRN2 (I315V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554717	NM_012255.5(XRN2):c.737C>T (p.Pro246Leu)	XRN2 (P246L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322962	NM_012255.5(XRN2):c.797G>A (p.Cys266Tyr)	XRN2 (C266Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191333	NM_012255.5(XRN2):c.806T>A (p.Phe269Tyr)	XRN2 (F269Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390513	NM_012255.5(XRN2):c.842G>A (p.Arg281Lys)	XRN2 (R281K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222161	NM_012255.5(XRN2):c.880C>T (p.Leu294Phe)	XRN2 (L372F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191334	NM_012255.5(XRN2):c.887G>T (p.Cys296Phe)	XRN2 (C374F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 724653	NM_012255.5(XRN2):c.1006G>A (p.Val336Ile)	XRN2 (V336I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2331194	NM_012255.5(XRN2):c.1084C>T (p.Arg362Cys)	XRN2 (R362C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408964	NM_012255.5(XRN2):c.1085G>A (p.Arg362His)	XRN2 (R362H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411750	NM_012255.5(XRN2):c.1173G>C (p.Met391Ile)	XRN2 (M391I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340190	NM_012255.5(XRN2):c.1345C>T (p.Pro449Ser)	XRN2 (P527S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525933	NM_012255.5(XRN2):c.1364G>C (p.Ser455Thr)	XRN2 (S455T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346110	NM_012255.5(XRN2):c.1370C>T (p.Pro457Leu)	XRN2 (P457L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191328	NM_012255.5(XRN2):c.1392G>A (p.Met464Ile)	XRN2 (M464I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191329	NM_012255.5(XRN2):c.1398G>A (p.Met466Ile)	XRN2 (M466I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457282	NM_012255.5(XRN2):c.1406A>G (p.Asn469Ser)	XRN2 (N469S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351008	NM_012255.5(XRN2):c.1514C>T (p.Pro505Leu)	XRN2 (P583L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482583	NM_012255.5(XRN2):c.1772C>T (p.Pro591Leu)	XRN2 (P669L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191330	NM_012255.5(XRN2):c.1843C>T (p.Arg615Trp)	XRN2 (R615W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337111	NM_012255.5(XRN2):c.2134C>T (p.Pro712Ser)	XRN2 (P712S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480140	NM_012255.5(XRN2):c.2147A>G (p.His716Arg)	XRN2 (H794R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462365	NM_012255.5(XRN2):c.2170T>A (p.Leu724Met)	XRN2 (L724M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409024	NM_012255.5(XRN2):c.2221A>G (p.Met741Val)	XRN2 (M741V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191331	NM_012255.5(XRN2):c.2407C>T (p.Arg803Cys)	XRN2 (R803C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191332	NM_012255.5(XRN2):c.2498A>G (p.Asn833Ser)	XRN2 (N833S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2499628	GRCh38/hg38 20p11.22(chr20:21386174-21530996)	LOC110121332, LOC112268271 +6 more	Copy number loss	See cases	GUncertain significance
Select item 2622090	NM_012255.5(XRN2):c.2686A>T (p.Met896Leu)	XRN2 (M896L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068499	Single allele	CFAP61, CRNKL1 +10 more	Complex	Hyperinsulinemic hypoglycemia, familial, 1	GLikely pathogenic
Select item 3068498	NC_000020.10:g.16400000_24400000del	BANF2, BFSP1 +49 more	Deletion	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 3068497	NC_000020.10:g.18200000_22600000del	CFAP61, CRNKL1 +19 more	Deletion	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 3068496	NC_000020.10:g.19434987_22528253del	CFAP61, CRNKL1 +10 more	Deletion	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 3068495	NC_000020.10:g.20158646_24080787del	CD93, CFAP61 +24 more	Deletion	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	SEC23B, SEL1L2 +164 more	Copy number gain	not provided	GPathogenic
Select item 1808534	GRCh37/hg19 20p11.23-11.22(chr20:21255910-21349367)x1	XRN2	Copy number loss	not provided	GUncertain significance
Select item 1526686	GRCh37/hg19 20p11.23-11.22(chr20:19292925-22187397)	CFAP61, CRNKL1 +10 more	Copy number loss	not specified	GPathogenic
Select item 1341087	GRCh37/hg19 20p11.23-q11.22(chr20:18665879-33903216)x3	ABHD12, ACSS1 +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 1340948	GRCh37/hg19 20p11.23-11.22(chr20:21098319-21512672)x3	KIZ, NKX2-2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 979562	GRCh37/hg19 20p11.23-q11.21(chr20:19750804-30479077)x3	CST9, ACSS1 +57 more	Copy number gain	not provided	GLikely pathogenic
Select item 816114	GRCh37/hg19 20p12.3-11.22(chr20:8571696-22088650)x1	KIF16B, SLC24A3 +49 more	Copy number loss	not provided	GPathogenic
Select item 816102	GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3	ABHD12, ACSS1 +177 more	Copy number gain	not provided	GPathogenic
Select item 686437	GRCh37/hg19 20p11.23-11.22(chr20:20817608-21771865)x3	KIZ, NKX2-2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 564639	GRCh37/hg19 20p11.23-11.21(chr20:21011162-22353628)x3	PAX1, XRN2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 560101	Single allele	CST11, CST2 +89 more	Duplication	not provided	GPathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	DZANK1, E2F1 +540 more	Copy number gain	See cases	GPathogenic
Select item 442830	GRCh37/hg19 20p11.23-11.1(chr20:18500917-25847320)x1	ABHD12, ACSS1 +44 more	Copy number loss	See cases	GPathogenic
Select item 424642	GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3	CST1, NAPB +178 more	Copy number gain	not provided	GPathogenic
Select item 253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	ABHD12, ACSS1 +176 more	Copy number gain	See cases	GPathogenic
Select item 253408	GRCh37/hg19 20p12.1-q11.21(chr20:17705775-31600738)x3	CD93, PDRG1 +89 more	Copy number gain	See cases	GPathogenic

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Items: 61