APOBEC2[gene] - ClinVar

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

Search results

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	CYP39A1, DAAM2 +2577 more	Copy number gain	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	AARS2, ABCC10 +435 more	Copy number loss	See cases	GPathogenic
Select item 2595089	NM_006789.4(APOBEC2):c.5C>A (p.Ala2Asp)	APOBEC2 (A2D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127933	NM_006789.4(APOBEC2):c.23C>T (p.Ala8Val)	APOBEC2 (A8V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400965	NM_006789.4(APOBEC2):c.34G>A (p.Glu12Lys)	APOBEC2 (E12K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390309	NM_006789.4(APOBEC2):c.136C>T (p.Arg46Trp)	APOBEC2 (R46W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269741	NM_006789.4(APOBEC2):c.150C>G (p.Asn50Lys)	APOBEC2 (N50K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305178	NM_006789.4(APOBEC2):c.259C>T (p.Arg87Trp)	APOBEC2 (R87W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595498	NM_006789.4(APOBEC2):c.298G>A (p.Glu100Lys)	APOBEC2 (E100K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127934	NM_006789.4(APOBEC2):c.346C>T (p.Arg116Trp)	APOBEC2 (R116W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127935	NM_006789.4(APOBEC2):c.363G>C (p.Trp121Cys)	APOBEC2 (W121C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493839	NM_006789.4(APOBEC2):c.505C>G (p.Leu169Val)	APOBEC2 (L169V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783754	NM_006789.4(APOBEC2):c.595T>C (p.Ser199Pro)	APOBEC2 (S199P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3127936	NM_006789.4(APOBEC2):c.608A>G (p.Gln203Arg)	APOBEC2 (Q203R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333148	NM_006789.4(APOBEC2):c.622A>G (p.Ile208Val)	APOBEC2 (I208V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2391199	NM_006789.4(APOBEC2):c.643T>A (p.Tyr215Asn)	APOBEC2 (Y215N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681305	NM_006789.4(APOBEC2):c.646G>A (p.Glu216Lys)	APOBEC2 (E216K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685202	GRCh37/hg19 6p21.31-21.1(chr6:35562152-42003452)x1	BNIP5, APOBEC2 +67 more	Copy number loss	not provided	GPathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 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: 21