CD52[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 3057395	NM_001803.3(CD52):c.12C>T (p.Phe4=)	CD52, LOC129929813 +1 more	Single nucleotide variant (synonymous variant +1 more)	CD52-related disorder	GLikely benign
Select item 2459659	NM_001803.3(CD52):c.43G>C (p.Val15Leu)	CD52, LOC129929813 +1 more (V15L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237260	NM_001803.3(CD52):c.49G>C (p.Val17Leu)	CD52, LOC129929813 +1 more (V17L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3059084	NM_001803.3(CD52):c.119A>G (p.Asn40Ser)	CD52 (N40S)	Single nucleotide variant (missense variant)	CD52-related disorder	GBenign
Select item 3059585	NM_001803.3(CD52):c.123A>G (p.Ile41Met)	CD52 (I41M)	Single nucleotide variant (missense variant)	CD52-related disorder	GBenign
Select item 2393821	NM_001803.3(CD52):c.148G>A (p.Val50Met)	CD52 (V50M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335104	NM_001803.3(CD52):c.176G>A (p.Cys59Tyr)	CD52 (C59Y)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2426901	NC_000001.10:g.(?_25870190)_(27278871_?)dup	ARID1A, AUNIP +33 more	Duplication	Retinitis pigmentosa 59	GUncertain significance
Select item 1341062	GRCh37/hg19 1p36.11(chr1:26246213-27044118)x3	ARID1A, CATSPER4 +18 more	Copy number gain	not provided	GUncertain significance
Select item 1072550	NC_000001.10:g.(?_25870180)_(26795632_?)del	AUNIP, CATSPER4 +22 more	Deletion	Hypercholesterolemia, familial, 4	GPathogenic
Select item 687260	GRCh37/hg19 1p36.11(chr1:26603699-26903828)x3	CD52, CEP85 +8 more	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
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