REXO2[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	BCL9L, BLID +774 more	Copy number gain	See cases	GPathogenic
Select item 57036	GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3	LOC130006895, LOC130006896 +355 more	Copy number gain	See cases	GPathogenic
Select item 2510308	NM_015523.4(REXO2):c.11G>A (p.Gly4Asp)	REXO2 (G4D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153306	NM_015523.4(REXO2):c.14C>T (p.Ser5Phe)	REXO2 (S5F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380721	NM_015523.4(REXO2):c.50G>A (p.Ser17Asn)	REXO2 (S17N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477073	NM_015523.4(REXO2):c.104C>A (p.Ala35Glu)	REXO2 (A35E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153305	NM_015523.4(REXO2):c.129G>A (p.Met43Ile)	REXO2 (M43I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330704	NM_015523.4(REXO2):c.161A>G (p.Asp54Gly)	REXO2 (D54G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533110	NM_015523.4(REXO2):c.295G>A (p.Glu99Lys)	REXO2 (E99K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377191	NM_015523.4(REXO2):c.413C>T (p.Pro138Leu)	REXO2 (P138L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153308	NM_015523.4(REXO2):c.505G>A (p.Val169Met)	REXO2 (V169M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610673	NM_015523.4(REXO2):c.527G>A (p.Cys176Tyr)	REXO2 (C176Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308974	NM_015523.4(REXO2):c.656T>C (p.Ile219Thr)	REXO2 (I219T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 1808702	GRCh37/hg19 11q22.3-23.3(chr11:109328787-116414966)x1	ALG9, ANKK1 +50 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1341168	GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3	ABCG4, ACRV1 +172 more	Copy number gain	not provided	GPathogenic
Select item 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	AASDHPPT, ACAT1 +182 more	Copy number loss	not provided	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 973579	NC_000011.9:g.104288964_134937416dup	VSIG2, VWA5A +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 815468	GRCh37/hg19 11q22.3-23.3(chr11:105699599-114524876)x1	AASDHPPT, ACAT1 +68 more	Copy number loss	not provided	GPathogenic
Select item 815462	GRCh37/hg19 11q22.3-23.2(chr11:103320065-114349787)x1	AASDHPPT, ACAT1 +76 more	Copy number loss	not provided	GPathogenic
Select item 688245	GRCh37/hg19 11q23.1-23.3(chr11:110969076-114578509)x1	ALG9, ANKK1 +45 more	Copy number loss	not provided	GUncertain significance
Select item 688050	GRCh37/hg19 11q22.3-23.3(chr11:104101411-116680918)x1	AASDHPPT, ACAT1 +80 more	Copy number loss	not provided	GPathogenic
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic

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Items: 28