547[HGNC] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 2401450	NM_003568.3(ANXA9):c.22A>G (p.Met8Val)	ANXA9 (M8V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277879	NM_003568.3(ANXA9):c.23T>C (p.Met8Thr)	ANXA9 (M8T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3127333	NM_003568.3(ANXA9):c.89G>A (p.Gly30Glu)	ANXA9 (G30E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361285	NM_003568.3(ANXA9):c.160A>G (p.Ile54Val)	ANXA9 (I54V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299826	NM_003568.3(ANXA9):c.181C>T (p.Arg61Cys)	ANXA9 (R61C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528563	NM_003568.3(ANXA9):c.211C>G (p.Arg71Gly)	ANXA9 (R71G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127328	NM_003568.3(ANXA9):c.212G>A (p.Arg71Gln)	ANXA9 (R71Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376818	NM_003568.3(ANXA9):c.236T>C (p.Ile79Thr)	ANXA9 (I79T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244742	NM_003568.3(ANXA9):c.257G>A (p.Arg86His)	ANXA9 (R86H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538092	NM_003568.3(ANXA9):c.276G>A (p.Met92Ile)	ANXA9 (M92I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263884	NM_003568.3(ANXA9):c.377T>C (p.Leu126Pro)	ANXA9 (L126P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543150	NM_003568.3(ANXA9):c.401A>G (p.Asp134Gly)	ANXA9 (D134G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222106	NM_003568.3(ANXA9):c.493G>T (p.Asp165Tyr)	ANXA9 (D165Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555773	NM_003568.3(ANXA9):c.529G>A (p.Asp177Asn)	ANXA9 (D177N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299816	NM_003568.3(ANXA9):c.553G>C (p.Gly185Arg)	ANXA9 (G185R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367922	NM_003568.3(ANXA9):c.557G>C (p.Gly186Ala)	ANXA9 (G186A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464459	NM_003568.3(ANXA9):c.575G>C (p.Gly192Ala)	ANXA9 (G192A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127330	NM_003568.3(ANXA9):c.595G>T (p.Ala199Ser)	ANXA9 (A199S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304093	NM_003568.3(ANXA9):c.751A>C (p.Asn251His)	ANXA9 (N251H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304094	NM_003568.3(ANXA9):c.752A>C (p.Asn251Thr)	ANXA9 (N251T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127331	NM_003568.3(ANXA9):c.755G>A (p.Arg252His)	ANXA9 (R252H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489566	NM_003568.3(ANXA9):c.764G>T (p.Gly255Val)	ANXA9 (G255V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127332	NM_003568.3(ANXA9):c.787G>A (p.Gly263Ser)	ANXA9 (G263S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2347594	NM_003568.3(ANXA9):c.815C>T (p.Pro272Leu)	ANXA9 (P272L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 150034	GRCh38/hg38 1q21.3(chr1:150989333-151584777)x1	ANXA9, BNIPL +59 more	Copy number loss	See cases	GLikely pathogenic
Select item 2385052	NM_003568.3(ANXA9):c.899G>T (p.Arg300Leu)	ANXA9 (R300L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620757	NM_003568.3(ANXA9):c.920G>A (p.Ser307Asn)	ANXA9 (S307N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595316	NM_003568.3(ANXA9):c.929C>A (p.Ala310Asp)	ANXA9 (A310D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299806	NM_003568.3(ANXA9):c.937A>G (p.Arg313Gly)	ANXA9 (R313G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127334	NM_003568.3(ANXA9):c.991G>T (p.Asp331Tyr)	ANXA9 (D331Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	YY1AP1, CRCT1 +228 more	Duplication	MHC class II deficiency +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 565180	GRCh37/hg19 1q21.3(chr1:150853044-154647786)x3	LCE2A, S100A2 +125 more	Copy number gain	not provided	GPathogenic
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 393719	GRCh37/hg19 1q21.1-21.3(chr1:143753740-151399970)x3	ACP6, ADAMTSL4 +103 more	Copy number gain	See cases	GPathogenic
Select item 225520	GRCh37/hg19 1q21.1-21.3(chr1:144927578-153223600)x3	CIART, LCE2A +154 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic

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Items: 41