CD164L2[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LOC129929733, LOC129929734 +1145 more	Copy number gain	See cases	GPathogenic
Select item 59928	GRCh38/hg38 1p36.11-35.3(chr1:26807012-27685191)x1	AHDC1, CD164L2 +98 more	Copy number loss	See cases	GPathogenic
Select item 148586	GRCh38/hg38 1p36.11-35.3(chr1:26854636-27645829)x1	AHDC1, CD164L2 +88 more	Copy number loss	See cases	GUncertain significance
Select item 58058	GRCh38/hg38 1p36.11-35.2(chr1:26963045-32279045)x3	ADGRB2, AHDC1 +348 more	Copy number gain	See cases	GPathogenic
Select item 2392304	NM_001330448.1(CD164L2):c.514A>G (p.Thr172Ala)	CD164L2 (T172A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375238	NM_001330448.1(CD164L2):c.439G>A (p.Val147Met)	CD164L2 (V147M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140334	NM_001330448.1(CD164L2):c.338A>G (p.His113Arg)	CD164L2 (H113R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349101	NM_001330448.1(CD164L2):c.250G>A (p.Glu84Lys)	CD164L2 (E84K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253966	NM_001330448.1(CD164L2):c.245C>A (p.Pro82Gln)	CD164L2 (P82Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298101	NM_001330448.1(CD164L2):c.170T>G (p.Leu57Arg)	CD164L2 (L57R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280424	NM_001330448.1(CD164L2):c.157G>A (p.Ala53Thr)	CD164L2 (A53T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140337	NM_001330448.1(CD164L2):c.75G>T (p.Gln25His)	CD164L2 (Q25H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140336	NM_001330448.1(CD164L2):c.71C>T (p.Ala24Val)	CD164L2 (A24V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140335	NM_001330448.1(CD164L2):c.59T>C (p.Leu20Pro)	CD164L2 (L20P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140333	NM_001330448.1(CD164L2):c.19C>T (p.Arg7Cys)	CD164L2 (R7C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526540	GRCh37/hg19 1p36.11-35.1(chr1:27543877-32819121)	GPR3, PTPRU +66 more	Copy number gain	not specified	GUncertain significance
Select item 1526429	GRCh37/hg19 1p36.11-35.3(chr1:27488298-28138628)	AHDC1, CD164L2 +11 more	Copy number loss	not specified	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic

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Items: 21