CD2[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LINC01780, LINC02868 +563 more	Copy number gain	See cases	GPathogenic
Select item 58084	GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3	ADORA3, AHCYL1 +391 more	Copy number gain	See cases	GPathogenic
Select item 58088	GRCh38/hg38 1p13.1-12(chr1:116059621-120130051)x3	ADAM30, ATP1A1 +140 more	Copy number gain	See cases	GPathogenic
Select item 57384	GRCh38/hg38 1p13.1-12(chr1:116679122-119290029)x1	CD101, CD101-AS1 +67 more	Copy number loss	See cases	GPathogenic
Select item 148763	GRCh38/hg38 1p13.1-12(chr1:116752007-117309842)x3	CD101, CD101-AS1 +26 more	Copy number gain	See cases	GUncertain significance
Select item 2621966	NM_001767.5(CD2):c.74A>G (p.Lys25Arg)	CD2 (K25R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264762	NM_001767.5(CD2):c.76G>A (p.Glu26Lys)	CD2 (E26K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390185	NM_001767.5(CD2):c.83C>T (p.Thr28Met)	CD2 (T28M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592136	NM_001767.5(CD2):c.113G>A (p.Gly38Asp)	CD2 (G38D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2553414	NM_001767.5(CD2):c.121A>C (p.Ile41Leu)	CD2 (I41L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140407	NM_001767.5(CD2):c.139A>G (p.Ser47Gly)	CD2 (S47G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2255561	NM_001767.5(CD2):c.146A>G (p.Gln49Arg)	CD2 (Q49R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622373	NM_001767.5(CD2):c.239A>G (p.Glu80Gly)	CD2 (E80G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300579	NM_001767.5(CD2):c.262A>C (p.Lys88Gln)	CD2 (K88Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238530	NM_001767.5(CD2):c.282T>G (p.Ile94Met)	CD2 (I94M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535066	NM_001767.5(CD2):c.283A>G (p.Lys95Glu)	CD2 (K95E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399038	NM_001767.5(CD2):c.306G>T (p.Gln102His)	CD2 (Q102H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466808	NM_001767.5(CD2):c.419T>C (p.Ile140Thr)	CD2 (I140T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264763	NM_001767.5(CD2):c.583G>A (p.Glu195Lys)	CD2 (E195K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402716	NM_001767.5(CD2):c.614A>G (p.Glu205Gly)	CD2 (E205G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609146	NM_001767.5(CD2):c.632A>C (p.Tyr211Ser)	CD2 (Y211S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525119	NM_001767.5(CD2):c.646A>G (p.Ile216Val)	CD2 (I216V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487449	NM_001767.5(CD2):c.669G>C (p.Leu223Phe)	CD2 (L223F +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2526312	NM_001767.5(CD2):c.691G>A (p.Val231Ile)	CD2 (V231I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2594909	NM_001767.5(CD2):c.808G>A (p.Ala270Thr)	CD2 (A270T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368965	NM_001767.5(CD2):c.886C>T (p.Arg296Cys)	CD2 (R296C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791111	NM_001767.5(CD2):c.945G>A (p.Pro315=)	CD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 219311	NM_001767.5(CD2):c.974G>C (p.Gly325Ala)	CD2 (G325A +1 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 3264761	NM_001767.5(CD2):c.1040C>T (p.Ser347Phe)	CD2 (S347F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527270	GRCh37/hg19 1p13.3-11.2(chr1:111647582-121343783)	NHLH2, NOTCH2 +78 more	Copy number gain	not specified	GPathogenic
Select item 1047871	GRCh37/hg19 1p21.2-12(chr1:102021465-119737478)	ATP1A1, RAP1A +131 more	Copy number loss	Seizure +1 more	GPathogenic
Select item 565143	GRCh37/hg19 1p13.1(chr1:117180331-117489298)x1	IGSF3, PTGFRN +1 more	Copy number loss	not provided	GUncertain significance
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 35