ClinVar for Gene (Select 389289) - ClinVar

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Links from Gene

Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246316	NC_000005.9:g.(?_42688972)_(45303961_?)dup	ANXA2R, C5orf34 +12 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3127281	NM_001014279.3(ANXA2R):c.496C>G (p.Leu166Val)	ANXA2R, ANXA2R-OT1 (L166V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127280	NM_001014279.3(ANXA2R):c.433T>G (p.Leu145Val)	ANXA2R, ANXA2R-OT1 (L145V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127279	NM_001014279.3(ANXA2R):c.418G>A (p.Asp140Asn)	ANXA2R, ANXA2R-OT1 (D140N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127278	NM_001014279.3(ANXA2R):c.373A>G (p.Ser125Gly)	ANXA2R, ANXA2R-OT1 (S125G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127277	NM_001014279.3(ANXA2R):c.35C>A (p.Ala12Asp)	ANXA2R, ANXA2R-OT1 (A12D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127276	NM_001014279.3(ANXA2R):c.176G>A (p.Ser59Asn)	ANXA2R, ANXA2R-OT1 (S59N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2683745	GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3	AGXT2, LOC121725200 +385 more	Copy number gain	See cases	GLikely pathogenic
Select item 2597809	NM_001014279.3(ANXA2R):c.34G>A (p.Ala12Thr)	ANXA2R, ANXA2R-OT1 (A12T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543989	NM_001014279.3(ANXA2R):c.391G>A (p.Asp131Asn)	ANXA2R, ANXA2R-OT1 (D131N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539577	NM_001014279.3(ANXA2R):c.451C>T (p.Pro151Ser)	ANXA2R, ANXA2R-OT1 (P151S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470862	NM_001014279.3(ANXA2R):c.67C>G (p.Gln23Glu)	ANXA2R, ANXA2R-OT1 (Q23E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367408	NM_001014279.3(ANXA2R):c.413T>G (p.Val138Gly)	ANXA2R, ANXA2R-OT1 (V138G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360084	NM_001014279.3(ANXA2R):c.497T>C (p.Leu166Pro)	ANXA2R, ANXA2R-OT1 (L166P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295678	NM_001014279.3(ANXA2R):c.344G>C (p.Arg115Thr)	ANXA2R, ANXA2R-OT1 (R115T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272650	NM_001014279.3(ANXA2R):c.449C>T (p.Pro150Leu)	ANXA2R, ANXA2R-OT1 (P150L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808669	GRCh37/hg19 5p13.3-11(chr5:29348753-46389339)x3	ADAMTS12, AGXT2 +71 more	Copy number gain	not provided	GPathogenic
Select item 1705919	GRCh37/hg19 5p13.2-11(chr5:36053583-46389339)x3	ANXA2R, C5orf34 +45 more	Copy number gain	musculoskeletal system issues	GPathogenic
Select item 1527153	GRCh37/hg19 5p14.1-11(chr5:26382110-46389339)	ADAMTS12, AGXT2 +72 more	Copy number gain	not specified	GPathogenic
Select item 1458418	NC_000005.9:g.(?_42688972)_(44388784_?)del	C5orf34, CCL28 +10 more	Deletion	not provided	GPathogenic
Select item 1180548	GRCh37/hg19 5p13.2-11(chr5:34984696-46405042)x3	AGXT2, ANXA2R +51 more	Copy number gain	not provided	GPathogenic
Select item 1012370	GRCh37/hg19 5p13.3-12(chr5:29081195-45294031)x3	ADAMTS12, AGXT2 +71 more	Copy number gain	See cases	GPathogenic
Select item 814684	GRCh37/hg19 5p13.1-q11.1(chr5:38432180-49441945)x3	GHR, CARD6 +31 more	Copy number gain	not provided	GPathogenic
Select item 687304	GRCh37/hg19 5p13.2-11(chr5:34453883-46389339)x3	AGXT2, ANXA2R +56 more	Copy number gain	not provided	GPathogenic
Select item 685907	GRCh37/hg19 5p12(chr5:42802309-43040495)x1	ANXA2R, CCDC152 +1 more	Copy number loss	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563053	GRCh37/hg19 5p14.1-12(chr5:27227243-45685844)x3	C1QTNF3, C5orf22 +71 more	Copy number gain	not provided	GPathogenic
Select item 442809	GRCh37/hg19 5p14.2-11(chr5:24281195-46389339)x3	ADAMTS12, AGXT2 +73 more	Copy number gain	See cases	GLikely pathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 253597	GRCh37/hg19 5p15.2-12(chr5:13461664-46098927)x3	RXFP3, GDNF +89 more	Copy number gain	See cases	GPathogenic
Select item 155284	GRCh38/hg38 5p12(chr5:42720837-43251761)x3	ANXA2R, ANXA2R-AS1 +32 more	Copy number gain	See cases	GUncertain significance
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	LOC126807363, LOC126807364 +518 more	Copy number gain	See cases	GPathogenic
Select item 147675	GRCh38/hg38 5p12(chr5:42804738-43066986)x1	ANXA2R, ANXA2R-AS1 +22 more	Copy number loss	See cases	GBenign
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	ADAMTS12, ADAMTS16 +953 more	Copy number gain	See cases	GPathogenic
Select item 58093	GRCh38/hg38 5p13.2-q11.1(chr5:36374107-51103841)x3	ANXA2R, ANXA2R-AS1 +245 more	Copy number gain	See cases	GPathogenic
Select item 58092	GRCh38/hg38 5p13.2-12(chr5:35700480-45260029)x3	LOC126807367, LOC126807368 +254 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	ADAMTS12, ADAMTS16 +952 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 40