HMGB4[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 145637	GRCh38/hg38 1p35.1(chr1:33411353-33916406)x3	CSMD2, CSMD2-AS1 +10 more	Copy number gain	See cases	GUncertain significance
Select item 57241	GRCh38/hg38 1p35.1-34.3(chr1:33564892-34725930)x3	C1orf94, CSMD2 +14 more	Copy number gain	See cases	GUncertain significance
Select item 2271975	NM_001379301.1(HMGB4):c.125C>T (p.Ser42Phe)	CSMD2, HMGB4 (S42F)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2388433	NM_001379301.1(HMGB4):c.140A>T (p.Glu47Val)	CSMD2, HMGB4 (E47V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3106265	NM_001379301.1(HMGB4):c.179A>G (p.Tyr60Cys)	CSMD2, HMGB4 (Y60C)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2229065	NM_001379301.1(HMGB4):c.188T>C (p.Leu63Pro)	CSMD2, HMGB4 (L63P)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3106266	NM_001379301.1(HMGB4):c.347C>T (p.Pro116Leu)	CSMD2, HMGB4 (P116L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312891	NM_001379301.1(HMGB4):c.354G>T (p.Trp118Cys)	CSMD2, HMGB4 (W44C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106267	NM_001379301.1(HMGB4):c.428A>T (p.Glu143Val)	CSMD2, HMGB4 (E69V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106268	NM_001379301.1(HMGB4):c.463G>A (p.Glu155Lys)	CSMD2, HMGB4 (E155K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590644	NM_001379301.1(HMGB4):c.530G>C (p.Arg177Pro)	CSMD2, HMGB4 (R103P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 814067	GRCh37/hg19 1p35.2-35.1(chr1:30819875-34380419)x3	TMEM54, RBBP4 +51 more	Copy number gain	not provided	GLikely pathogenic
Select item 688775	GRCh37/hg19 1p35.1(chr1:33872592-34425324)x3	CSMD2, HMGB4 +1 more	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	NKAIN1, PLA2G2E +783 more	Copy number gain	Global developmental delay +1 more	GUncertain significance
Select item 625764	GRCh37/hg19 1p35.1-34.3(chr1:32859415-36454915)	YARS1, ZBTB8A +41 more	Copy number loss	not provided	GPathogenic
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	GJB3, PIK3R3 +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	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 395171	GRCh37/hg19 1p35.1(chr1:33878903-34381948)x3	CSMD2, HMGB4 +1 more	Copy number gain	See cases	GUncertain significance

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Items: 23