547[HGNC] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

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	SELENBP1, SEMA4A +228 more	Duplication	Kostmann syndrome +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 41