ClinVar for Gene (Select 6414) - ClinVar

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Links from Gene

Items: 52

	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 3159615	NM_005410.4(SELENOP):c.890C>G (p.Pro297Arg)	CCDC152, SELENOP (P327R +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3159614	NM_005410.4(SELENOP):c.884T>C (p.Leu295Ser)	CCDC152, SELENOP (L325S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3159613	NM_005410.4(SELENOP):c.607C>T (p.Pro203Ser)	CCDC152, SELENOP (P203S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3159612	NM_005410.4(SELENOP):c.431T>C (p.Val144Ala)	SELENOP (V144A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159611	NM_005410.4(SELENOP):c.382A>C (p.Asn128His)	SELENOP (N128H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159610	NM_005410.4(SELENOP):c.368T>C (p.Val123Ala)	SELENOP (V153A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159608	NM_005410.4(SELENOP):c.290G>A (p.Arg97Gln)	SELENOP (R97Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3159607	NM_005410.4(SELENOP):c.220G>A (p.Val74Ile)	SELENOP (V74I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159606	NM_005410.4(SELENOP):c.1103G>A (p.Arg368His)	CCDC152, SELENOP (R398H +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3159605	NM_005410.4(SELENOP):c.1081A>G (p.Thr361Ala)	CCDC152, SELENOP (T361A +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3159604	NM_005410.4(SELENOP):c.1060A>C (p.Ile354Leu)	CCDC152, SELENOP (I354L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	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 2655451	NM_005410.4(SELENOP):c.45A>G (p.Pro15=)	SELENOP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2569209	NM_005410.4(SELENOP):c.47C>T (p.Ser16Leu)	SELENOP (S46L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553607	NM_005410.4(SELENOP):c.515G>A (p.Cys172Tyr)	SELENOP (C172Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527084	NM_005410.4(SELENOP):c.605C>T (p.Ser202Leu)	CCDC152, SELENOP (S202L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2526256	NM_005410.4(SELENOP):c.304C>G (p.His102Asp)	SELENOP (H102D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511083	NM_005410.4(SELENOP):c.562C>T (p.Arg188Cys)	CCDC152, SELENOP (R218C +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	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 1710915	GRCh37/hg19 5p13.1-12(chr5:41879852-42913979)x1	CCDC152, FBXO4 +3 more	Copy number loss	See cases	GPathogenic
Select item 1710914	GRCh37/hg19 5p13.1-12(chr5:41879852-42906725)x1	CCDC152, FBXO4 +3 more	Copy number loss	See cases	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 787815	NM_005410.4(SELENOP):c.416+10T>C	SELENOP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 783435	NM_005410.4(SELENOP):c.690A>G (p.Gly230=)	CCDC152, SELENOP	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 747158	NM_005410.4(SELENOP):c.54_55insG (p.Thr19fs)	SELENOP (T49fs +1 more)	Insertion (frameshift variant)	not provided	GLikely benign
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 685765	GRCh37/hg19 5p12(chr5:42600658-42844121)x3	CCDC152, GHR +1 more	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563060	GRCh37/hg19 5p13.1-12(chr5:41879642-42911463)x1	SELENOP, RIMOC1 +3 more	Copy number loss	not provided	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 153578	GRCh38/hg38 5p13.1-12(chr5:41876210-42913877)x1	CCDC152, FBXO4 +18 more	Copy number loss	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 144612	GRCh38/hg38 5p13.1-12(chr5:41901984-42896060)x1	CCDC152, FBXO4 +16 more	Copy number loss	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: 52