CD93[gene] - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	ABHD12, ACSS1 +833 more	Copy number gain	See cases	GPathogenic
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	LOC126863004, LOC126863005 +814 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC130065574, LOC130065575 +950 more	Copy number gain	See cases	GPathogenic
Select item 59196	GRCh38/hg38 20p11.22-q11.1(chr20:22061586-30285812)x3	ABHD12, ACSS1 +174 more	Copy number gain	See cases	GPathogenic
Select item 2457153	NM_012072.4(CD93):c.1937C>T (p.Pro646Leu)	CD93 (P646L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688534	NM_012072.4(CD93):c.1934+86G>A	CD93	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2456611	NM_012072.4(CD93):c.1901G>A (p.Arg634Gln)	CD93 (R634Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2634918	NM_012072.4(CD93):c.1900C>T (p.Arg634Ter)	CD93 (R634*)	Single nucleotide variant (nonsense)	CD93-related disorder	GUncertain significance
Select item 2308171	NM_012072.4(CD93):c.1856A>C (p.Lys619Thr)	CD93 (K619T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140714	NM_012072.4(CD93):c.1838G>A (p.Arg613Lys)	CD93 (R613K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250419	NM_012072.4(CD93):c.1832C>G (p.Ala611Gly)	CD93 (A611G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140713	NM_012072.4(CD93):c.1820G>A (p.Arg607His)	CD93 (R607H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323972	NM_012072.4(CD93):c.1777A>G (p.Ile593Val)	CD93 (I593V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598344	NM_012072.4(CD93):c.1751T>A (p.Phe584Tyr)	CD93 (F584Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051666	NM_012072.4(CD93):c.1627G>A (p.Val543Ile)	CD93 (V543I)	Single nucleotide variant (missense variant)	CD93-related disorder	GLikely benign
Select item 2688535	NM_012072.4(CD93):c.1621C>T (p.Pro541Ser)	CD93 (P541S)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2257446	NM_012072.4(CD93):c.1609C>T (p.Pro537Ser)	CD93 (P537S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770299	NM_012072.4(CD93):c.1559C>T (p.Ser520Leu)	CD93 (S520L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2544445	NM_012072.4(CD93):c.1547C>G (p.Thr516Arg)	CD93 (T516R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688438	NM_012072.4(CD93):c.1488T>C (p.Arg496=)	CD93	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 3060757	NM_012072.4(CD93):c.1487G>A (p.Arg496His)	CD93 (R496H)	Single nucleotide variant (missense variant)	CD93-related disorder	GLikely benign
Select item 3140712	NM_012072.4(CD93):c.1483C>T (p.Pro495Ser)	CD93 (P495S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 734870	NM_012072.4(CD93):c.1478C>T (p.Thr493Ile)	CD93 (T493I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3044385	NM_012072.4(CD93):c.1449GGA[1] (p.Glu484del)	CD93 (E484del)	Microsatellite (inframe deletion)	CD93-related disorder	GLikely benign
Select item 3033416	NM_012072.4(CD93):c.1439C>G (p.Pro480Arg)	CD93 (P480R)	Single nucleotide variant (missense variant)	CD93-related disorder	GUncertain significance
Select item 2462733	NM_012072.4(CD93):c.1409G>A (p.Gly470Glu)	CD93 (G470E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140710	NM_012072.4(CD93):c.1390G>A (p.Gly464Arg)	CD93 (G464R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788624	NM_012072.4(CD93):c.1344G>A (p.Gly448=)	CD93	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2213357	NM_012072.4(CD93):c.1301C>T (p.Pro434Leu)	CD93 (P434L)	Single nucleotide variant (missense variant)	CD93-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 769080	NM_012072.4(CD93):c.1282G>T (p.Val428Leu)	CD93 (V428L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2333984	NM_012072.4(CD93):c.1264G>C (p.Gly422Arg)	CD93 (G422R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538599	NM_012072.4(CD93):c.1135G>A (p.Gly379Arg)	CD93 (G379R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391384	NM_012072.4(CD93):c.833G>C (p.Gly278Ala)	CD93 (G278A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389291	NM_012072.4(CD93):c.833G>A (p.Gly278Glu)	CD93 (G278E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470856	NM_012072.4(CD93):c.832G>T (p.Gly278Trp)	CD93 (G278W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388141	NM_012072.4(CD93):c.832G>A (p.Gly278Arg)	CD93 (G278R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140717	NM_012072.4(CD93):c.783G>C (p.Lys261Asn)	CD93 (K261N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266783	NM_012072.4(CD93):c.764C>G (p.Pro255Arg)	CD93 (P255R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522351	NM_012072.4(CD93):c.549C>A (p.Ser183Arg)	CD93 (S183R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140716	NM_012072.4(CD93):c.393G>C (p.Glu131Asp)	CD93 (E131D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037430	NM_012072.4(CD93):c.354C>G (p.Gly118=)	CD93	Single nucleotide variant (synonymous variant)	CD93-related disorder	GLikely benign
Select item 3034758	NM_012072.4(CD93):c.350T>G (p.Val117Gly)	CD93 (V117G)	Single nucleotide variant (missense variant)	CD93-related disorder	GBenign
Select item 2355235	NM_012072.4(CD93):c.335A>G (p.Lys112Arg)	CD93 (K112R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213992	NM_012072.4(CD93):c.320C>T (p.Pro107Leu)	CD93 (P107L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3029079	NM_012072.4(CD93):c.123G>A (p.Ser41=)	CD93	Single nucleotide variant (synonymous variant)	CD93-related disorder	GLikely benign
Select item 3140709	NM_012072.4(CD93):c.103G>C (p.Ala35Pro)	CD93 (A35P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289528	NM_012072.4(CD93):c.70G>C (p.Ala24Pro)	CD93 (A24P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527240	NM_012072.4(CD93):c.61G>A (p.Gly21Arg)	CD93 (G21R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494564	NM_012072.4(CD93):c.50A>T (p.Gln17Leu)	CD93 (Q17L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318875	NM_012072.4(CD93):c.23T>C (p.Leu8Pro)	CD93 (L8P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068498	NC_000020.10:g.16400000_24400000del	BANF2, BFSP1 +49 more	Deletion	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 3068495	NC_000020.10:g.20158646_24080787del	CD93, CFAP61 +24 more	Deletion	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	SEC23B, SEL1L2 +164 more	Copy number gain	not provided	GPathogenic
Select item 2684903	GRCh37/hg19 20p11.21(chr20:22885710-23297651)x3	CD93, SSTR4 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1341087	GRCh37/hg19 20p11.23-q11.22(chr20:18665879-33903216)x3	ABHD12, ACSS1 +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 979562	GRCh37/hg19 20p11.23-q11.21(chr20:19750804-30479077)x3	CST9, ACSS1 +57 more	Copy number gain	not provided	GLikely pathogenic
Select item 816102	GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3	ABHD12, ACSS1 +177 more	Copy number gain	not provided	GPathogenic
Select item 560101	Single allele	CST11, CST2 +89 more	Duplication	not provided	GPathogenic
Select item 548966	GRCh37/hg19 20p11.22-11.21(chr20:21680345-24383453)x1	CD93, CST1 +17 more	Copy number loss	See cases	GLikely pathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	DZANK1, E2F1 +540 more	Copy number gain	See cases	GPathogenic
Select item 442830	GRCh37/hg19 20p11.23-11.1(chr20:18500917-25847320)x1	ABHD12, ACSS1 +44 more	Copy number loss	See cases	GPathogenic
Select item 424642	GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3	CST1, NAPB +178 more	Copy number gain	not provided	GPathogenic
Select item 253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	ABHD12, ACSS1 +176 more	Copy number gain	See cases	GPathogenic
Select item 253408	GRCh37/hg19 20p12.1-q11.21(chr20:17705775-31600738)x3	CD93, PDRG1 +89 more	Copy number gain	See cases	GPathogenic

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Items: 68